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Article

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

American journal of medical genetics. Part A - 1 Apr 2004

Shoo Brenda A, McPherson Elizabeth, Jabs Ethylin Wang

Abstract excerpt

Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been proposed. This syndrome can result from TCOF1 gene mutations. In this study we identified a TCOF1 1408delAG heterozygous mutation in...

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Source

Identifiers

PMID: 15039977
DOI: 10.1002/ajmg.a.20488

Genes

TCOF1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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