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Article

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.

Molecular vision - 20 Jan 2011

Khan Arif O, Shinwari Jameela, Omar Aisha, Al-Sharif Latifa, Khalil Dania S, Alanazi Mohammed, Al-Amri Abdullah, Al Tassan Nada

Abstract excerpt

PURPOSE: Congenital fibrosis of the extraocular muscles type I (CFEOM1), the most common CFEOM worldwide, is characterized by bilateral ptotic hypotropia, an inability to supraduct above the horizontal midline, horizontal strabismus (typically exotropia), and ophthalmoplegia with abnormal synkinesis. This distinct non-syndromic phenotype is considered autosomal dominant and is virtually always from heterozygous...

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Identifiers

PMID: 21264235
PMCID: PMC3025099

Genes

TUBB3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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