Condition: Photosensitive Trichothiodystrophy


rs121913016 in ERCC2 gene and Photosensitive Trichothiodystrophy PMID 9238033 1997 Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

PMID 9758621 1998 Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

PMID 11242112 2001 A temperature-sensitive disorder in basal transcription and DNA repair in humans.

PMID 7920640 1994 Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.

PMID 9195225 1997 DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.

PMID 8571952 1996 Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.