Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Stankiewicz, P; Khan, TN; Szafranski, P; Slattery, L; Streff, H; Vetrini, F; Bernstein, JA; Brown, CW; Rosenfeld, JA; Rednam, S; Scollon, S; Bergstrom, KL; Parsons, DW; Plon, SE; Vieira, MW; Quaio, CRDC; Baratela, WAR; Guio, JCA; Armstrong, R; Mehta,

Stankiewicz, P; Yang, YP (reprint author), Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.; Stankiewicz, P; Yang, YP (reprint author), Baylor Genet, Houston, TX 77021 USA.

AMERICAN JOURNAL OF HUMAN GENETICS, 2017; 101 (4): 503

Abstract

Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remod......

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