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

Stankiewicz, Pawel; Khan, Tahir N; Szafranski, Przemyslaw; Slattery, Leah; Streff, Haley; Vetrini, Francesco; Bernstein, Jonathan A; Brown, Chester W; Rosenfeld, Jill A; Rednam, Surya; Scollon, Sarah; Bergstrom, Katie L; Parsons, Donald W; Plon, Sharon E; Vieira, Marta W; Quaio, Caio R D C; Baratela, Wagner A R; Acosta Guio, Johanna C; Armstrong, Ruth; Mehta, Sarju G; Rump, Patrick; Pfundt, Rolph; Lewandowski, Raymond; Fernandes, Erica M; Shinde, Deepali N; Tang, Sha; Hoyer, Juliane; Zweier, Christiane; Reis, André; Bacino, Carlos A; Xiao, Rui; Breman, Amy M; Smith, Janice L; Katsanis, Nicholas; Bostwick, Bret; Popp, Bernt; Davis, Erica E; Yang, Yaping.
Am J Hum Genet; 101(4): 503-515, 2017 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-28942966