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

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El Chehadeh, Salima | Thevenon, Julien | Rivière, Jean-Baptiste | Duffourd, Yannis | Faivre, Laurence | Thauvin-Robinet, Christel | Miguet, Marguerite

Edité par CCSD ; Wiley -

International audience. 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.

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