Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Abstract
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal GTPase, U5-116 kDa/EFTUD2, is responsible. Here, we review the molecular basis of MFDM in the 69 individuals described to date, and report mutations in 38 new individuals, bringing the total number of...
Paper Details
Title
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Published Date
Nov 19, 2015
Journal
Volume
37
Issue
2
Pages
148 - 154
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