Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, 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.
Sanlaville D, et al. Among authors: fredouille c.
J Med Genet. 2006 Mar;43(3):211-217. doi: 10.1136/jmg.2005.036160. Epub 2005 Sep 16.
J Med Genet. 2006.
PMID: 16169932
Free PMC article.