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Article

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

American journal of human genetics - 1 Mar 1997

Edwards S J, Gladwin A J, Dixon M J

Abstract excerpt

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mutations, which are spread throughout the gene, are presented. This brings the total reported to...

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Share to Chromosomes, Human, Pair 5
Share to Codon, Terminator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9042910
PMCID: PMC1712503

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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