학술논문
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Document Type
Article
Author
Stankiewicz, P.; Szafranski, P.; Streff, H.; Rosenfeld, J.A.; Parsons, D.W.; Plon, S.E.; Bacino, C.A.; Xiao, R.; Breman, A.M.; Smith, J.L.; Bostwick, B.; Yang, Y.; Vetrini, F.; Khan, T.N.; Katsanis, N.; Davis, E.E.; Slattery, L.; Bernstein, J.A.; Brown, C.W.; Rednam, S.; Scollon, S.; Bergstrom, K.L.; Vieira, M.W.; Quaio, C.R.D.C.; Baratela, W.A.R.; Acosta Guio, J.C.; Armstrong, R.; Mehta, S.G.; Rump, P.; Pfundt, R.; Lewandowski, R.; Fernandes, E.M.; Shinde, D.N.; Tang, S.; Hoyer, J.; Zweier, C.; Reis, A.; Popp, B.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 5 October 2017, 101(4):503-515)
Subject
Language
English
ISSN
15376605
00029297
00029297