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Article

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

BMC medical genetics - 27 Sept 2011

Conte Chiara, D'Apice Maria Rosaria, Rinaldi Fabrizio, Gambardella Stefano, Sangiuolo Federica, Novelli Giuseppe

Abstract excerpt

BACKGROUND: Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other...

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Source

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Identifiers

PMID: 21951868
DOI: 10.1186/1471-2350-12-125
PMCID: PMC3199234

Genes

TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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