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Alexander A L Jorge
Alexander A L Jorge
Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil
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Thomas Edouard
Thomas Edouard
Endocrine, Bone Diseases, and Genetics Unit, Children’s Hospital, Toulouse University Hospital, RESTORE INSERM UMR1301, Toulouse, France
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Mohamad Maghnie
Mohamad Maghnie
Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
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Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
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Alberto Pietropoli
Alberto Pietropoli
Novo Nordisk Health Care AG, Global Medical Affairs Biopharm, Zürich, Switzerland
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Nicky Kelepouris
Nicky Kelepouris
Novo Nordisk Inc., Clinical, Medical and Regulatory Biopharm-RED, Plainsboro, New Jersey, USA
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Alicia Romano
Alicia Romano
Department of Pediatrics, New York Medical College, Valhalla, New York, USA
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Martin Zenker
Martin Zenker
Institute of Human Genetics & Department of Pediatrics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany
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Reiko Horikawa
Reiko Horikawa
Department of Endocrine and Metabolism, National Center for Child Health and Development, Tokyo, Japan
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) observed that patients with a PTPN11 mutation were significantly shorter and thinner at birth compared with patients with other mutations ( 9 ), supporting the hypothesis that NS-associated mutations may impact the regulation of energy metabolism. A
