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Article

Trichothiodystrophy: from basic mechanisms to clinical implications.

DNA repair - 2 Jan 2010

Stefanini M, Botta E, Lanzafame M, Orioli D

Abstract excerpt

Trichothiodystrophy (TTD) is an autosomal recessive disorder with symptoms affecting several tissues and organs. The most relevant features are hair abnormalities, physical and mental retardation, ichthyosis, signs of premature aging and cutaneous photosensitivity. The clinical spectrum of TTD varies widely from patients with only brittle, fragile hair to patients with the most severe neuroectodermal symptoms. To...

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PMID: 19931493
DOI: 10.1016/j.dnarep.2009.10.005

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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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