Article
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Human molecular genetics - 1 Feb 2016
Srivastava Anshika, Ritesh K C, Tsan Yao-Chang, Liao Rosy, Su Fengyun, Cao Xuhong, Hannibal Mark C, Keegan Catherine E, Chinnaiyan Arul M, Martin Donna M, Bielas Stephanie L
Abstract excerpt
De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual disability. We identified three novel de novo heterozygous truncating variants distributed across ASXL3, outside the...
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