Article
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Human mutation - 1 Dec 2017
Chen Li, Jensik Philip J, Alaimo Joseph T, Walkiewicz Magdalena, Berger Seth, Roeder Elizabeth, Faqeih Eissa A, Bernstein Jonathan A, Smith Ann C M, Mullegama Sureni V, Saffen David W, Elsea Sarah H
Abstract excerpt
Deformed epidermal autoregulatory factor-1 (DEAF1), a transcription factor essential for central nervous system and early embryonic development, has recently been implicated in a series of intellectual disability-related neurodevelopmental anomalies termed, in this study, as DEAF1-associated neurodevelopmental disorder (DAND). We identified six potentially deleterious DEAF1 variants in a cohort of individuals...
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