Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features
Journal article published in 2016 by
Anne-Sophie Weingertner,
Marguerite Miguet,
Julien Thevenon,
Vincent Laugel 
,
Mathilde Lefebvre,
Aurélie Bourchany,
Pierre Vabres,
Jean-Baptiste Rivière,
Yannis Duffourd,
Elise Schaefer,
Valérie Kremer,
Maria Cristina Antal ,
Fanny Morice-Picard,
Rosalie Abida,
Marie Gonzales
and other authors.
,
Mathilde Lefebvre,
Aurélie Bourchany,
Pierre Vabres,
Jean-Baptiste Rivière,
Yannis Duffourd,
Elise Schaefer,
Valérie Kremer,
Maria Cristina Antal ,
Fanny Morice-Picard,
Rosalie Abida,
Marie Gonzales
and other authors.
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Abstract
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.