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Article

Treacher Collins syndrome: etiology, pathogenesis and prevention.

European journal of human genetics : EJHG - 1 Mar 2009

Trainor Paul A, Dixon Jill, Dixon Michael J

Abstract excerpt

Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which are rarely fully corrective. Identifying potential avenues for rescue and/or repair of TCS depends on a profound...

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Source

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Identifiers

PMID: 19107148
DOI: 10.1038/ejhg.2008.221
PMCID: PMC2986179

Genes

TCOF1

Provenance

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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