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A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

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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.... ...