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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Detalles Bibliográficos
Autores principales: Xu, Wanxue, Plummer, Lacey, Quinton, Richard, Swords, Francesca, Crowley, William F., Seminara, Stephanie B., Balasubramanian, Ravikumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304352/
https://www.ncbi.nlm.nih.gov/pubmed/32376645
http://dx.doi.org/10.1101/mcs.a005033

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