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Article

Clinical features, treatment and genetic background of Treacher Collins syndrome.

Journal of applied genetics - 1 Jan 2002

Marszałek Bozena, Wójcicki Piotr, Kobus Kazimierz, Trzeciak Wiesław H

Abstract excerpt

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate. Current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background of TCS are described. The TCS locus has been mapped to chromosome 5q31.3-32....

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Source

Identifiers

PMID: 12080178

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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