Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2. - Chen, Ying; Yang, Run; Chen, Xin; Lin, Naier; Li, Chenlong; Fu, Yaoyao; He, Aijuan; Wang, Yimin; Zhang, Tianyu; Ma, Jing (Molecular Genetics & Genomic Medicine, 2024)