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Article

Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.

Yi chuan xue bao = Acta genetica Sinica - 1 Aug 2006

Zhang Xian-Qin, Peng Jian-Hong, Tang Zhao-Hui, Xu Cheng-Qi, Zhou Xin, Gong Shu-Xian, Liu Jing-Yu, Wang Qing, Liu Mu-Gen

Abstract excerpt

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. In this study, we identified a Chinese family with CFEOMI for four generations. Linkage analysis mapped the causative gene of the family to...

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PMID: 16939002
DOI: 10.1016/S0379-4172(06)60100-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16939002-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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