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

by Stankiewicz, Paweł, 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
Published in Am J Hum Genet (2017)