MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

Gordon, Christopher T; Chopra, Maya; Oufadem, Myriam; Alibeu, Olivier; Bras, Marc; Boddaert, Nathalie; Bole-Feysot, Christine; Nitschké, Patrick; Abadie, Véronique; Lyonnet, Stanislas; Amiel, Jeanne.
Am J Med Genet A; 176(1): 181-186, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29159987