Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
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DOI: 10.1093/hmg/ddac200
Abstract: De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders termed DEAF1-associated neurodevelopmental disorders (DAND).… read more here.
Keywords: neurodevelopmental disorders; expression; associated neurodevelopmental; deaf1 ... See more keywords