Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Human mutation - 1 Feb 2016
Huang Lijia, Vanstone Megan R, Hartley Taila, Osmond Matthew, Barrowman Nick, Allanson Judith, Baker Laura, Dabir Tabib A, Dipple Katrina M, Dobyns William B, Estrella Jane, Faghfoury Hanna, Favaro Francine P, Goel Himanshu, Gregersen Pernille A, Gripp Karen W, Grix Art, Guion-Almeida Maria-Leine, Harr Margaret H, Hudson Cindy, Hunter Alasdair G W, Johnson John, Joss Shelagh K, Kimball Amy, Kini Usha, Kline Antonie D, Lauzon Julie, Lildballe Dorte L, López-González Vanesa, Martinezmoles Johanna, Meldrum Cliff, Mirzaa Ghayda M, Morel Chantal F, Morton Jenny E V, Pyle Louise C, Quintero-Rivera Fabiola, Richer Julie, Scheuerle Angela E, Schönewolf-Greulich Bitten, Shears Deborah J, Silver Josh, Smith Amanda C, Temple I Karen, van de Kamp Jiddeke M, van Dijk Fleur S, Vandersteen Anthony M, White Sue M, Zackai Elaine H, Zou Ruobing, Bulman Dennis E, Boycott Kym M, Lines Matthew A
Abstract excerpt
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...
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