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Article

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.

American journal of medical genetics. Part A - 1 May 2005

Horiuchi Katsumi, Ariga Tadashi, Fujioka Hirotaka, Kawashima Kunihiro, Yamamoto Yuhei, Igawa Hiroharu, Sugihara Tsuneki, Sakiyama Yukio

Abstract excerpt

Treacher Collins Syndrome (TCS) (OMIM 154500) is a congenital, craniofacial disorder inherited as an autosomal dominant trait. The responsible gene for TCS, TCOF1, was mapped to 5q32-33.1 and identified in 1996. Since then, TCOF1 mutations in patients with TCS have been reported from Europe, North and South America, however, no TCS cases from an Asian country have been molecularly characterized. Here we report...

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Identifiers

PMID: 15759264
DOI: 10.1002/ajmg.a.30357

Genes

TCOF1

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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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