Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
D Sanlaville, H C Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, A-L Delezoide, M-C Aubry, A Pelet, S Chemouny, C Cruaud, S Audollent, C Esculpavit, G Goudefroye, C Ozilou, C Fredouille, N Joye, N Morichon-Delvallez, Y Dumez, J Weissenbach, A Munnich, J Amiel, F Encha-Razavi, S Lyonnet, M Vekemans, T Attié-Bitach
Journal of Medical Genetics Mar 2006, 43 (3) 211-317; DOI: 10.1136/jmg.2005.036160