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Article

KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.

International journal of molecular medicine - 1 Dec 2011

Wang Panfeng, Li Shiqiang, Xiao Xueshan, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

Kinesin family member 21A (KIF21A) mutation is the most common cause for congenital fibrosis of the extraocular muscles type 1 (CFEOM1) in populations worldwide. However, only 12 missense mutations have been reported to date. In this study, KIF21A screening was performed in two Chinese families with CFEOM1. Ophthalmological examinations were performed. The coding exons and adjacent intronic regions of KIF21A were...

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Source

Identifiers

PMID: 21805025
DOI: 10.3892/ijmm.2011.759

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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