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Article

Central osteosclerosis with trichothiodystrophy.

Pediatric radiology - 1 Jul 2004

Wakeling Emma L, Cruwys Michele, Suri Mohnish, Brady Angela F, Aylett Sarah E, Hall Christine

Abstract excerpt

Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder associated with defects in nucleotide excision repair. We report a 7-year-old boy with TTD due to mutation in the XPD gene. The patient has classic features of this condition, including brittle, sulphur-deficient hair,...

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PMID: 15148554
DOI: 10.1007/s00247-004-1207-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15148554-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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