Article
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.
Molecular genetics & genomic medicine - 1 Apr 2024
Chen Ying, Yang Run, Chen Xin, Lin Naier, Li Chenlong, Fu Yaoyao, He Aijuan, Wang Yimin, Zhang Tianyu, Ma Jing
Abstract excerpt
BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM, OMIM# 610536) is a rare monogenic disease that is caused by a mutation in the elongation factor Tu GTP binding domain containing 2 gene (EFTUD2, OMIM* 603892). It is characterized by mandibulofacial dysplasia, microcephaly, malformed ears, cleft palate, growth and intellectual disability. MFDM can be easily misdiagnosed due to its phenotypic overlap...
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