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Article

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

Cold Spring Harbor molecular case studies - 1 Jun 2020

Xu Wanxue, Plummer Lacey, Quinton Richard, Swords Francesca, Crowley William F, Seminara Stephanie B, Balasubramanian Ravikumar

Abstract excerpt

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 hypogonadism (implying a gonadal defect), an adolescent girl with WARBM/MS was subsequently reported to have...

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PMID: 32376645
DOI: 10.1101/mcs.a005033
PMCID: PMC7304352

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