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Introduction Male breast cancer (MBC) is a rare disease, representing about 1% of all breast cancers (BCs) and less than 1% of all cancers in men ( 1 ). Germline pathogenic variants in BC genes, particularly BRCA1 , BRCA2 and PALB2 genes
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study nor previous publications found any correlation between these variables ( 30 ). When discussing the results of the present study, several limitations should be considered. NETs are a rare disease with the incidence rate ranging from around 2 to 5
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Stochholm K & Gravholt CH . Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXY and 47,XYY syndrome: a nationwide cohort study . Orphanet Journal of Rare Diseases 2019 14 16. ( https://doi.org/10.1186/s
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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Université Claude Bernard, Lyon, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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, which aimed at centralizing and homogenizing the medical management of all patients with disorders of sex development. In 2006, it was structured as part of the first national plan for rare diseases (‘Plan National Maladies Rares’), which widened its
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Tirosh A Tirosh A Leibowitz-Amit R Eshet Y Greenberg G Merlinsky A Barhod E Steinberg-Silman Y Isolated autoimmune adrenocorticotropic hormone deficiency: from a rare disease to the dominant cause of adrenal insufficiency related to
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pancreatitis 1 55 Discussion Clinical registries of rare diseases allow to collect information from a high number of patients gathering data from different hospitals in real practice. The aim of our project is to improve our knowledge
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. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy . Orphanet Journal of Rare Diseases 2011 6 34 . ( doi:10.1186/1750-1172-6-34 ) 5 Preisler N Haller RG Vissing J
Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Introduction Acromegaly is a rare disease that is caused by excessive growth hormone (GH) secretion by a pituitary adenoma ( 1 , 2 , 3 ). The clinical picture of active acromegaly is characterized by a combination of symptoms, signs, and
Université Clermont Auvergne, Faculté de Médecine, Clermont-Ferrand, France
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CHU Clermont-Ferrand, Service de Biostatistiques, Clermont-Ferrand, France
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CHU de Clermont-Ferrand, Service d’Endocrinologie, Diabétologie et Maladies Métaboliques, Clermont-Ferrand, France
Laboratoire GReD: UMR Université Clermont Auvergne-CNRS 6293, INSERM U1103, Clermont-Ferrand, France
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Laboratoire GReD: UMR Université Clermont Auvergne-CNRS 6293, INSERM U1103, Clermont-Ferrand, France
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CHU Clermont-Ferrand, Inserm CIC 1405, Clermont-Ferrand, France
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Université Clermont Auvergne, Inserm, Neuro-Dol, Clermont-Ferrand, France
CHU de Clermont-Ferrand, Service de chirurgie maxillo-faciale, Clermont-Ferrand, France
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Université Clermont Auvergne, Faculté de Médecine, Clermont-Ferrand, France
Laboratoire GReD: UMR Université Clermont Auvergne-CNRS 6293, INSERM U1103, Clermont-Ferrand, France
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Université Clermont Auvergne, Inserm, Neuro-Dol, Clermont-Ferrand, France
Université Clermont Auvergne, Faculté de Chirurgie Dentaire, Clermont-Ferrand, France
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Journal of Rare Diseases 2008 3 17 . ( https://doi.org/10.1186/1750-1172-3-17 ) 2 Vilar L Vilar CF Lyra R Lyra R Naves LA . Acromegaly: clinical features at diagnosis . Pituitary 2017 20 22 – 32 . ( https://doi.org/10.1007/s11102
Department of Endocrinology, Oncological Endocrinology and Nuclear Medicine, University Hospital, Krakow, Poland
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Department of Endocrinology, Oncological Endocrinology and Nuclear Medicine, University Hospital, Krakow, Poland
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Department of Endocrinology, Oncological Endocrinology and Nuclear Medicine, University Hospital, Krakow, Poland
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Introduction Cushing’s syndrome (CS) is a rare disease with an incidence ranging from 0.7 to 2.4 per million people per year ( 1 ). In contrast, venous thromboembolism (VTE), which includes pulmonary embolism (PE) and deep-vein thrombosis (DVT