Article
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
American journal of medical genetics. Part A - 1 Jan 2013
Luquetti Daniela V, Hing Anne V, Rieder Mark J, Nickerson Deborah A, Turner Emily H, Smith Joshua, Park Sarah, Cunningham Michael L
Abstract excerpt
Heterozygous mutations in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536). We present clinical and radiographic features of three additional patients with de novo heterozygous mutations in EFTUD2. Although clinical features overlap with findings of the original report (choanal atresia, cleft palate, maxillary...
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