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Xi Wang Department of Obstetrics and Gynaecology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China

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Qi Yu Department of Obstetrics and Gynaecology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China

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. McCune–Albright syndrome . Orphanet Journal of Rare Diseases 2008 3 12 . ( https://doi.org/10.1186/1750-1172-3-12 ) 2 Weinstein LS Shenker A Gejman PV Merino MJ Friedman E Spiegel AM. Activating mutations of the stimulatory G protein in the

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Heike Hoyer-Kuhn Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany

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Angela Huebner Department of Paediatrics, University Children’s Hospital Dresden, Dresden, Germany

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Anette Richter-Unruh University Children’s Hospital Bochum, Bochum, Nordrhein-Westfalen, Germany

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Markus Bettendorf University Children’s Hospital Heidelberg, Heidelberg, Germany

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Tilman Rohrer University Children’s Hospital Homburg, Homburg, Germany

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Klaus Kapelari University Children’s Hospital Innsbruck, Innsbruck, Austria

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Stefan Riedl Department of Pediatric, Medical University of Vienna, Vienna, Austria
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria

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Klaus Mohnike Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

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Helmuth-Günther Dörr University Children’s Hospital Erlangen, Erlangen, Germany

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Friedrich-Wilhelm Roehl Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

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Katharina Fink Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

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Reinhard W Holl Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

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Joachim Woelfle University Children’s Hospital Erlangen, Erlangen, Germany

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reports are send to all participating centers twice a year. These reports might be a useful tool for treatment improvement and standardization. CAH is one of approximately 5000–8000 known rare diseases that affect about 6% of the population. Standardized

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Nelma Veronica Marques Neuroendocrinology Research Center, Endocrinology Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

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Luiz Eduardo Armondi Wildemberg Neuroendocrinology Research Center, Endocrinology Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

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Monica R Gadelha Neuroendocrinology Research Center, Endocrinology Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

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half of the normal range who have hyperglycaemia. Declaration of interest MG has received speaker fees from Recordati Rare Diseases, Ipsen, Crinetics Pharmaceuticals, and Novo Nordisk and attended advisory boards for Novo Nordisk, Recordati Rare

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M Guftar Shaikh Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

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Timothy G Barrett Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK

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Nicola Bridges Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, UK

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Robin Chung Research Working Group, Prader-Willi Syndrome Association, Northampton, UK

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Evelien F Gevers Department of Paediatric Endocrinology, Barts Health NHS Trust, Royal London Hospital, London, UK
Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK

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Anthony P Goldstone PsychoNeuroEndocrinologyResearch Group, Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK

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Anthony Holland Department of Psychiatry, University of Cambridge, Cambridge, UK

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Shankar Kanumakala Royal Alexandra Children’s Hospital, Brighton, UK

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Ruth Krone Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK

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Andreas Kyriakou Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus

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E Anne Livesey Royal Alexandra Children’s Hospital, Brighton, UK
Sussex Community NHS Trust, Brighton, UK

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Angela K Lucas-Herald Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

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Christina Meade CHI at Tallaght University Hospital, Dublin, Republic of Ireland

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Susan Passmore Prader-Willi Syndrome Association, Northampton, UK

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Edna Roche CHI at Tallaght University Hospital, Dublin, Republic of Ireland
The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland

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Chris Smith Royal Alexandra Children’s Hospital, Brighton, UK

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Sarita Soni Learning Disability Psychiatry, NHS Greater Glasgow and Clyde, Glasgow, UK

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, together with those with an interest in PWS, often a paediatric endocrinologist, as similar multi-disciplinary models have successfully worked in other countries (e.g. Rare Diseases Center of Reference ‘Prader-Willi Syndrome and Obesity with Eating

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Jean-Philippe Bertocchio Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Physiologie, Paris, France
Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, INSERM, UMRS1138, Paris, France

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Natalie Grosset Hypoparathyroïdisme France, Annecy, France

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Lionel Groussin Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Université de Paris, Paris, France

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Peter Kamenický Université Paris-Saclay, Inserm U1185, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d’Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Le Kremlin-Bicêtre, France

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Fabrice Larceneux Université Paris-Dauphine, PSL Research University, CNRS, UMR 7088, DRM [Ermes], Paris, France

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Anne Lienhardt-Roussie CHU Dupuytren, Hôpital Mère Enfant, Endocrinologie Pédiatrique, Limoges, France

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Agnès Linglart Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Université Paris-Saclay, Inserm U1185, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Service d’Endocrinologie et Diabète de l’Enfant, Centre de Référence des Maladies Rares du Calcium et du Phosphore et Filière de Santé Maladies Rares OSCAR, Hôpital Bicêtre Paris Saclay, Le Kremlin-Bicêtre, France

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Gérard Maruani Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Physiologie, Paris, France
Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Assistance Publique-Hôpitaux de Paris, Institut Necker-Enfants Malades, INSERM U1151 – CNRS UMR 8253, Paris, France

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Eric Mirallie Chirurgie Cancérologique, Digestive et Endocrine, Institut des Maladies de l’Appareil Digestif, Hôtel Dieu, CHU Nantes, France
Association Francophone de Chirurgie Endocrinienne (AFCE), France

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François Pattou Université de Lille, CHU Lille, Institut Pasteur Lille, Inserm U1190, Lille, France

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Riyad N H Seervai Molecular & Cellular Biology Graduate Program, Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA

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Coralie Sido Hypoparathyroïdisme France, Annecy, France

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Caroline Silve Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Biochimie et Génétique Moléculaires, Paris, France
INSERM, U1169, Université Paris Sud, Hôpital Bicêtre, Le Kremlin Bicêtre, France

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Aurélie Vilfaillot Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Unité de Recherche Clinique, Paris, France
INSERM, U1418, CIC-EC, Hôpital Européen Georges Pompidou, Paris, France

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Antoine Tabarin Service Endocrinologie Diabète et Nutrition, CHU de Bordeaux, Université de Bordeaux, Pessac, France

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Marie-Christine Vantyghem CHU Lille, Department of Endocrinology, Diabetology and Metabolism, Inserm U1190, EGID, Lille, France

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Pascal Houillier Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Physiologie, Paris, France
Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, INSERM, UMRS1138, Paris, France
CNRS, ERL8228, Paris, France

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the investigators of the Épi-Hypo study
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the investigators of the Épi-Hypo study

%) cohorts. Considering international guidelines recommending targeting symptoms, PCa, PPi, and UCa, only 31 (26%) physicians and 29 (32%) ePatients were fully in agreement with the guidelines. Discussion Hypoparathyroidism is a rare disease that

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A C Paepegaey Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France

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M Coupaye Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France

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A Jaziri Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France

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F Ménesguen Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France

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B Dubern Nutrition and Gastroenterology Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Armand Trousseau Children’s Hospital, Paris, France

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M Polak Pediatric Endocrinology, Diabetology and Gynecology Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Necker Enfants Malades Hospital University Hospital, Paris, France

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J M Oppert Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France

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M Tauber Pediatric Endocrinology Department, Children’s Hospital, French Reference Center for Prader-Willi Syndrome, Toulouse, France

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G Pinto Pediatric Endocrinology, Diabetology and Gynecology Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Necker Enfants Malades Hospital University Hospital, Paris, France

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C Poitou Nutrition Department, Assistance-Publique Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, French Reference Center for Prader-Willi Syndrome, Sorbonne Université, Paris, France
INSERM, UMRS 1166, Nutriomic Group 6, Paris, France
Sorbonne Université, UMRS1166, Paris, France

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, 16 ). The transition from pediatric to adult health care is even more challenging in adolescents with PWS, especially because of cognitive and psychiatric disorders. Moreover, PWS is a rare disease characterized by a complex disability. Medical care

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Danielle Christine Maria van der Kaay Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Anne Rochtus Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium

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Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany

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Ingo Kurth Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Dirk Prawitt Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany

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Irène Netchine Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

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Gudmundur Johannsson Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden

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Anita C S Hokken-Koelega Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

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Miriam Elbracht Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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Thomas Eggermann Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

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. Genetics in Medicine 2017 19 1055 – 1063 . ( https://doi.org/10.1038/gim.2017.1 ) 8 Wright CF FitzPatrick DR Firth HV . Paediatric genomics: diagnosing rare disease in children . Nature Reviews: Genetics 2018 19 325. ( https://doi.org/10.1038/nrg

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Christine Poitou Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France

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Anthony Holland Department of Psychiatry, University of Cambridge, UK

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Charlotte Höybye Department of Endocrinology and Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden

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Laura C G de Graaff Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands

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Sandrine Bottius Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France

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Berit Otterlei Landsforeningen for Prader-Willis Syndrom Hiltonåsen, Slependen, Norway

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Maithé Tauber Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service d’Endocrinologie, Obésités, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, Toulouse, France

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-Willi syndrome . Orphanet Journal of Rare Diseases 2017 12 118. ( https://doi.org/10.1186/s13023-017-0673-6 ) 2 Tauber M Hoybye C . Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction . Lancet. Diabetes

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A Gizard Department of Pediatric Orthopedic Surgery, Besançon University Hospital, Paris, France

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A Rothenbuhler APHP, Department of Pediatric Endocrinology, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Plateforme d’Expertise Paris Sud Maladies Rares and Filière OSCAR, Bicêtre Paris Sud, Le Kremlin Bicêtre, France

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Z Pejin APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France

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G Finidori APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France

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C Glorion APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France

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B de Billy Department of Pediatric Orthopedic Surgery, Besançon University Hospital, Paris, France

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A Linglart APHP, Department of Pediatric Endocrinology, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Plateforme d’Expertise Paris Sud Maladies Rares and Filière OSCAR, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
INSERM U1169, Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, Le Kremlin Bicêtre, France

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P Wicart Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France

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all patients affected with XLHR who underwent at least one orthopedic surgery in Necker hospital, Paris and in the Centre Hospitalier Universitaire, Besançon, France. Patients were identified through the Reference Center of Rare Diseases of Calcium and

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Aline Stangherlin Martins Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Ann Kristine Jansen Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Luiz Oswaldo Carneiro Rodrigues Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Camila Maria Matos Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Marcio Leandro Ribeiro Souza Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Juliana Ferreira de Souza Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Maria de Fátima Haueisen Sander Diniz Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Sandhi Maria Barreto Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Leonardo Mauricio Diniz Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Nilton Alves de Rezende Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil
Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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Vincent Michael Riccardi Neurofibromatosis Outpatient Reference Center, Department of Nutrition, Federal University of Minas Gerais, Department of Medical Clinic, Federal University of Minas Gerais, Department of Preventive and Social Medicine, Federal University of Minas Gerais, Department of Internal Medicine, Federal University of Minas Gerais, The Neurofibromatosis Institute, Federal University of Minas Gerais, Alameda Álvaro Celso 55, Belo Horizonte, Minas Gerais, Brazil

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high enough for a rare disease study. Finally, another possible limitation of the present study is that the non-NF1 controls were selected from ELSA data without systematic exclusion of conditions, other than DM, that could alter FBG level. Conclusions

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