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Article

Trichothiodystrophy, a transcription syndrome.

Trends in genetics : TIG - 1 May 2001

Bergmann E, Egly J M

Abstract excerpt

Trichothiodystrophy (TTD) is a rare genetic disorder characterized by a hair dysplasia and associated with numerous symptoms affecting mainly organs derived from the neuroectoderm. About half of TTD patients exhibit photosensitivity because their nucleotide-excision repair pathway (NER) does not remove UV-induced DNA lesions efficiently. However, they do not present the skin cancer susceptibility expected from...

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Identifiers

PMID: 11335038
DOI: 10.1016/s0168-9525(01)02280-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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