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Article

A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

International journal of pediatric otorhinolaryngology - 1 Sept 2013

Zhang Xu, Fan Yue, Zhang Ying, Xue Huadan, Chen Xiaowei

Abstract excerpt

OBJECTIVE: To analyze the clinical features, hearing rehabilitation and family related gene mutations in the Chinese cases of Treacher Collins syndrome (TCS). The purpose of this study is to emphasize the genetic research result correlating with the clinical assessment of TCS in Chinese families. METHODS: Six patients with tentative diagnosis and family members of two patients were analyzed in this study. The...

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Source

Identifiers

PMID: 23838542
DOI: 10.1016/j.ijporl.2013.05.013

Genes

TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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