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Published in 2022 at "Human molecular genetics"
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).…
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Keywords:
neurodevelopmental disorders;
expression;
associated neurodevelopmental;
deaf1 ... See more keywords