Article
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Clinical genetics - 1 Aug 2022
Cadieux-Dion Maxime, Farrow Emily, Thiffault Isabelle, Cohen Ana S A, Welsh Holly, Bartik Lauren, Schwager Caitlin, Engleman Kendra, Zhou Dihong, Zhang Lei, Repnikova Elena, Amudhavalli Shivarajan M, Saunders Carol J
Abstract excerpt
Loss of function variants in JARID2 were recently reported in 16 patients with a neurodevelopmental disorder characterized by delays, intellectual and learning disability, autism, behavioral abnormalities, and dysmorphic features. Most cases were de novo, with only one variant inherited from an affected parent. Here, we present seven additional individuals from five families with pathogenic or likely pathogenic...
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