A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
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DOI: 10.1101/mcs.a006206
Abstract: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report… read more here.
Keywords: mandibulofacial dysostosis; loss; loss eftud2; novo start ... See more keywords