Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
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DOI: 10.1016/j.ajhg.2017.08.014
Abstract: Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF… read more here.
Keywords: postnatal microcephaly; microcephaly dysmorphic; bptf; delay ... See more keywords