ESPE Abstracts

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia and short stature. Loss of function mutations of EFTUD2 were previously reported in MFDM, however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. Here, we identified a novel frameshift mutation of EFTUD2 in a MFDM Chinese patient...