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Article

Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum.

The Tohoku journal of experimental medicine - 1 Dec 2010

Huang Xue-shuang, Li Xin, Tan Can, Xiao Ling, Jiang Hai-ou, Zhang Shu-fang, Wang Dun-mei, Zhang Jian-xiang

Abstract excerpt

Oculo-auriculo-vertebral spectrum (OAVS) is a common developmental disorder involving first and second pharyngeal arches. Although some family cases and such patients showing chromosomal aberrations suggest that OAVS have a genetic basis, no consistent genetic defects have been recorded at present time. Thus, we conducted genetic studies of a three-generation family with five OAVS patients to identify a causative...

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Source

Identifiers

PMID: 21150135
DOI: 10.1620/tjem.222.311

Genes

SALL1
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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