Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.
Tavasoli AR et al.
Molecular Genetics & Genomic Medicine, 2025
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Lanzafame M et al.
Human Mutation, 2022
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
Tamura D et al.
European Journal of Human Genetics : Ejhg, 2012
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Boyle J et al.
Human Mutation, 2008
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