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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Bibliografiske detaljer
Udgivet i:Cold Spring Harb Mol Case Stud
Main Authors: Xu, Wanxue, Plummer, Lacey, Quinton, Richard, Swords, Francesca, Crowley, William F., Seminara, Stephanie B., Balasubramanian, Ravikumar
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2020
Fag:
Research Reports
Online adgang: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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