Article
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
European journal of human genetics : EJHG - 1 Dec 2012
Tamura Deborah, Khan Sikandar G, Merideth Melissa, DiGiovanna John J, Tucker Margaret A, Goldstein Alisa M, Oh Kyu-Seon, Ueda Takahiro, Boyle Jennifer, Sarihan Mansi, Kraemer Kenneth H
Abstract excerpt
The XPD(ERCC2) gene encodes a DNA helicase involved in DNA repair and transcription. Patients with mutations in XPD may have different autosomal recessive phenotypes including trichothiodystrophy (TTD) or xeroderma pigmentosum (XP). TTD patients have sulfur-deficient, brittle hair, short stature and developmental delay. In contrast, XP patients have freckle-like pigmentation and a greatly increased risk of...
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