Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia:evidence of digenic inheritance  

作　　者：Nuo Si Guoqin Zhan Xiaolu Meng Zeya Zhang Xin Huang Bo Pan 

机构地区：[1]Plastic Surgery Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing,100043,China

出　　处：《Frontiers of Medicine》2023年第5期1006-1009,共4页医学前沿（英文版）

基　　金：supported by the CAMS Innovation Fund for Medical Sciences (No.2021-I2M-1-052);the Research Funds from CAMS Plastic Surgery Hospital (Nos.YS202036 and YS202003).

摘　　要：Dear Editor,Craniofacial microsomia(CFM,MIM#164210)is a congenital malformation involving the first and second branchial arch derivatives.The phenotype of CFM is highly variable and typically affects the external ear,middle ear,mandible and temporomandibular joint,and facial muscles on the affected side.Accompanied by craniofacial anomalies,cardiac,vertebral,and central nervous system defects may occur.Microtia is considered the minimum diagnostic criterion[1,2].

关 键 词：ani CONGENITAL VERTEBRAL 

分 类 号：R394[医药卫生—医学遗传学]