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Article

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

BMC genetics - 18 May 2007

Chan Wai-Man, Andrews Caroline, Dragan Laryssa, Fredrick Douglas, Armstrong Linlea, Lyons Christopher, Geraghty Michael T, Hunter David G, Yazdani Ahmad, Traboulsi Elias I, Pott Jan W R, Gutowski Nicholas J, Ellard Sian, Young Elizabeth, Hanisch Frank, Koc Feray, Schnall Bruce, Engle Elizabeth C

Abstract excerpt

BACKGROUND: Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. We previously reported that most individuals with CFEOM1 and rare individuals with CFEOM3 har...

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Identifiers

PMID: 17511870
DOI: 10.1186/1471-2156-8-26
PMCID: PMC1888713

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17511870-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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