Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Por 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
Publicado em 2006