Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features - Université de Bourgogne Accéder directement au contenu
Article Dans Une Revue Prenatal Diagnosis Année : 2016

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

Résumé

Congenital ichthyosis is a condition that includes several distinct subtypes with significant genetic heterogeneity. Defects in the ERCC2 [xeroderma pigmentosum (XP) complementation group D] gene lead to one of several clinical diseases, including XP, trichothiodystrophy, cerebrooculofacioskeletal syndrome, XP/Cockayne syndrome, and XP/trichothiodystrophy.

Mots clés

Domaines

Génétique

Dates et versions

hal-01457570 , version 1 (06-02-2017)

Identifiants

Citer

Salima El Chehadeh, Julien Thevenon, Jean-Baptiste Rivière, Yannis Duffourd, Laurence Faivre, et al.. Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. Prenatal Diagnosis, 2016, ⟨10.1002/pd.4965⟩. ⟨hal-01457570⟩

Collections

UNIV-BOURGOGNE
81 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More