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Article

Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.

The Journal of craniofacial surgery - 1 Sept 2016

Hao Shaojuan, Jin Lei, Wang Huijun, Li Chenlong, Zheng Fengyun, Ma Duan, Zhang Tianyu

Abstract excerpt

Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. Genomic DNA of the patients and their parents was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27526242
DOI: 10.1097/SCS.0000000000002934
PMCID: PMC5023764

Genes

TCOF1
GSC
HOXA2

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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