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

Source:http://linkedlifedata.com/resource/pubmed/id/16169932

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Authors

Martinovic J, Amiel J, Vekemans M, Weissenbach J, Esculpavit C, Munnich A, Dumez Y, Gonzalez T, Lyonnet S, Encha-Razavi F, Pelet A, Morichon-Delvallez N, Joye N, Cruaud C, Fredouille C, Chemouny S, Attié-Bitach T, Sanlaville D, Etchevers HC, Audollent S, Ozilou C, Wong C, Clément-Ziza M, Delezoide AL, Goudefroye G

Affiliation

Département de Génétique et Unité INSERM U-393, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

Abstract

The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown.

PMID
16169932

Publication types

Research Support, Non-U.S. Gov't