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Article

Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Mar 2008

Lu Shasha, Zhao Chen, Zhao Kanxing, Li Ningdong, Larsson Catharina

Abstract excerpt

OBJECTIVE: To characterize the disease-causing mutations and associated clinical phenotypes in 5 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). METHODS: Ophthalmic investigations included visual acuity, levator function, documentation of compensatory head position, ocular motility, and slitlamp and fundus examinations. The kinesin family member 21A gene (KIF21A) was sequenced for...

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Identifiers

PMID: 18332320
DOI: 10.1001/archopht.126.3.388

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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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