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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Pubblicato in:Cold Spring Harb Mol Case Stud
Autori principali: Xu, Wanxue, Plummer, Lacey, Quinton, Richard, Swords, Francesca, Crowley, William F., Seminara, Stephanie B., Balasubramanian, Ravikumar
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2020
Soggetti:
Research Reports
Accesso online: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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