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Article

Analysis of mutations in the XPD gene in a patient with brittle hair.

Annals of clinical and laboratory science - 1 Jan 2013

Shin Saeam, Kim Juwon, Kim Yoonjung, Sun Je Young, Yoo Jong Ha, Lee Kyung-A

Abstract excerpt

Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder characterized by sulfur-deficient brittle hair, growth and mental retardation, and ichthyosis. TTD is caused primarily by mutations in the xeroderma pigmentosum group D (XPD) gene, which encodes a subunit of the basal transcription factor IIH. We have identified a novel heterozygous mutation in XPD (c.1906C>T; p.R636W) resulting in...

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PMID: 23884229

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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