Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations
天使形指骨发育不良、髋关节发育不良和牙齿位置异常是与 CDMP-1 基因突变相关的 C 型短指畸形谱系的一部分。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.2003.013904
Holder-Espinasse, M; Escande, F; Mayrargue, E; Dieux-Coeslier, A; Fron, D; Doual-Bisser, A; Boute-Benejean, O; Robert, Y; Porchet, N; Manouvrier-Hanu, S