Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome

Biallelic pathogenic variants in RAB3GAP2 cause Warburg Micro syndrome (WARBM) and Martsolf syndrome (MS), two rare, phenotypically overlapping disorders characterized by congenital cataracts, intellectual disability, and hypogonadism. Although the initial report documented hypergonadotropic hypogon...

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Опубликовано в: :Cold Spring Harb Mol Case Stud
Главные авторы: Xu, Wanxue, Plummer, Lacey, Quinton, Richard, Swords, Francesca, Crowley, William F., Seminara, Stephanie B., Balasubramanian, Ravikumar
Формат: Artigo
Язык:Inglês
Опубликовано: Cold Spring Harbor Laboratory Press 2020
Предметы:
Research Reports
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7304352/
https://ncbi.nlm.nih.gov/pubmed/32376645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005033
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