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Article

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Feb 2024

Yin Bin, Pang Yu-Ya, Shi Jia-Yu, Lin Yan-Song, Sun Jia-Lin, Zheng Qian, Shi Bing, Jia Zhong-Lin

Abstract excerpt

The purpose of this study is to analyze the clinical characteristics of a Treacher Collins syndrome (TCS) patient carrying a de novo variant of TCOF1, and briefly analyze the correlation between genetic results and clinical features. Also, the pathogenesis and clinical treatment of TCS are reviewed. A Chinese pedigree with TCS containing 8 members was enrolled. Phenotype of the proband was evaluated by a surgeon,...

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PMID: 36082953
DOI: 10.1177/10556656221125387

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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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