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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Xu, Wanxue, Plummer, Lacey, Quinton, Richard, Swords, Francesca, Crowley, William F., Seminara, Stephanie B., Balasubramanian, Ravikumar
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2020
Assuntos:
Research Reports
Acesso em linha: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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