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A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency.

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第一作者： Roberto,Oleari

第一单位： Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.

作者： Roberto,Oleari ^[1] ; Valentina,André ^[1] ; Antonella,Lettieri ^[1] ; Sophia,Tahir ^[2] ; Lise,Roth ^[3] ; Alyssa,Paganoni ^[1] ; Ivano,Eberini ^[1] ; Chiara,Parravicini ^[1] ; Valeria,Scagliotti ^[4] ; Ludovica,Cotellessa ^[5] ; Francesco,Bedogni ^[6] ; Lisa Benedetta,De Martini ^[1] ; Maria Vittoria,Corridori ^[1] ; Simona,Gulli ^[1] ; Hellmut G,Augustin ^[7] ; Carles,Gaston-Massuet ^[4] ; Khalid,Hussain ^[8] ; Anna,Cariboni ^[9]

作者单位： Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy. ^[1] Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. ^[2] Division of Vascular Oncology and Metastasis, German Cancer Research Center (DKFZ-ZMBH Alliance), Heidelberg, Germany. ^[3] Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. ^[4] Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.;IRCCS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research, Milan, Italy. ^[5] San Raffaele Rett Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.;Neuroscience and Mental Health Research Institute (NMHRI), Division of Neuroscience, School of Biosciences, Cardiff, United Kingdom. ^[6] Division of Vascular Oncology and Metastasis, German Cancer Research Center (DKFZ-ZMBH Alliance), Heidelberg, Germany.;European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany. ^[7] Sidra Medical & Research Center, Division of Endocrinology OPC, Department of Pediatric Medicine, Doha, Qatar. ^[8] Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy, anna.cariboni@unimi.it. ^[9]

关键词 GnRH neurons Hypogonadism SEMA3G