Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children

Yu, KPT; Luk, HM; Gordon, CT; Fung, G; Oufadem, M; Garcia-Barcelo, MM; Amiel, J; Chung, BHY; Lo, IFM; Tiong, YT

Tiong, YT (reprint author), Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA 3052, Australia.

CLINICAL DYSMORPHOLOGY, 2018; 27 (2): 31

Abstract

Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by ab......

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