Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
通过鉴定EFTUD2基因中的一种新的致病突变,诊断出一种伴有小头畸形的非典型下颌面骨发育不全。
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.2426
Chen, Ying; Yang, Run; Chen, Xin; Lin, Naier; Li, Chenlong; Fu, Yaoyao; He, Aijuan; Wang, Yimin; Zhang, Tianyu; Ma, Jing