Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mattioli, Francesca; Schaefer, Elise; Magee, Alex; Mark, Paul; Mancini, Grazia M; Dieterich, Klaus; Von Allmen, Gretchen; Alders, Marielle; Coutton, Charles; van Slegtenhorst, Marjon; Vieville, Gaëlle; Engelen, Mark; Cobben, Jan Maarten; Juusola, Jane; Pujol, Aurora; Mandel, Jean-Louis; Piton, Amélie.
Am J Hum Genet; 100(1): 105-116, 2017 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-27939639