Associated Papers
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
Reunert J et al.
American Journal of Medical Genetics. Part A, 2021
Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene.
Zhang SD et al.
The Journal of Dermatology, 2019
Xeroderma pigmentosum group D: Report of a novel combination of ERCC2 variations and its phenotype.
Hida T et al.
The Journal of Dermatology, 2019
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
Penkert J et al.
Breast Cancer Research : Bcr, 2018
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
Horibata K et al.
Journal of Human Genetics, 2015
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