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

Miguet, Marguerite

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. [electronic resource] - Prenatal diagnosis Dec 2016 - 1276-1279 p. digital

Publication Type: Case Reports; Journal Article

1097-0223

10.1002/pd.4965 doi


Craniofacial Abnormalities--genetics
Female
Fetal Death
Gestational Age
Humans
Ichthyosis--embryology
Male
Mutation
Pregnancy
Trichothiodystrophy Syndromes--genetics
Xeroderma Pigmentosum Group D Protein--genetics