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Article

Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome.

Clinical dysmorphology - 1 Oct 2007

Su Pen-Hua, Yu Ju-Shan, Chen Jia-Yuh, Chen Suh-Jen, Li Shuan-Yow, Chen Hsiao-Neng

Abstract excerpt

Oculo-auriculo-vertebral spectrum, the exact genetic predisposition of which has not yet been resolved, is characterized by varying degrees of the prevalently unilateral underdevelopment of craniofacial structures and spinal anomalies. Here, we analyzed four cases exhibiting multiple features of oculo-auriculo-vertebral spectrum and one case with Treacher-Collins syndrome. The cranium was analyzed using...

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Source

Identifiers

PMID: 17786119
DOI: 10.1097/MCD.0b013e3281c108d2

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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