Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
胎儿期 CHD7 截断突变所致 CHARGE 综合征的表型谱与人类发育过程中的表达相关
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.2005.036160
Sanlaville, D; Etchevers, H C; Gonzales, M; Martinovic, J; Clément-Ziza, M; Delezoide, A-L; Aubry, M-C; Pelet, A; Chemouny, S; Cruaud, C; Audollent, S; Esculpavit, C; Goudefroye, G; Ozilou, C; Fredouille, C; Joye, N; Morichon-Delvallez, N; Dumez, Y; Weissenbach, J; Munnich, A; Amiel, J; Encha-Razavi, F; Lyonnet, S; Vekemans, M; Attié-Bitach, T
