Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
染色质重塑因子BPTF的单倍体不足会导致综合征性发育和语言迟缓、出生后小头畸形和面部畸形。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.08.014.
Paweł Stankiewicz,Tahir N Khan,Przemyslaw Szafranski,Leah Slattery,Haley Streff,Francesco Vetrini,Jonathan A Bernstein,Chester W Brown,Jill A Rosenfeld,Surya Rednam,Sarah Scollon,Katie L Bergstrom,Donald W Parsons,Sharon E Plon,Marta W Vieira,Caio R D C Quaio,Wagner A R Baratela,Johanna C Acosta Guio,Ruth Armstrong,Sarju G Mehta,Patrick Rump,Rolph Pfundt,Raymond Lewandowski,Erica M Fernandes,Deepali N Shinde,Sha Tang,Juliane Hoyer,Christiane Zweier,André Reis,Carlos A Bacino,Rui Xiao,Amy M Breman,Janice L Smith