Article
De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.
Human mutation - 1 Jan 2026
Mehta Neel H, Dennis Evan, Allington Garrett, Mekbib Kedous Y, Hale Andrew T, Davalan William C, Duy Phan Q, Zilla Emmarose, Fan Baojian, Kasper Ekkehard M, Alper Seth L, Haider Shozeb, Kahle Kristopher T
Abstract excerpt
Congenital hydrocephalus (CH), characterized by congenital ventriculomegaly (CV), affects approximately 0.5-1 per 1000 live births and is a common cause of pediatric neurosurgical intervention, yet its genetic architecture remains incompletely defined. We report a child with syndromic CH requiring cerebrospinal fluid diversion who harbored a pathogenic de novo missense variant in TRIO (c.3232C > T;...
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