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Article

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.

Ophthalmic genetics - 1 Apr 2021

Al-Haddad Christiane, Boustany Rose-Mary, Rachid Elza, Ismail Karine, Barry Brenda, Chan Wai-Man, Engle Elizabeth

Abstract excerpt

Background: Congenital fibrosis of the extraocular muscles (CFEOM) is characterized by ptosis and non-progressive restrictive ophthalmoplegia. CFEOM1 is a stereotypical phenotype with isolated bilateral ptosis, bilateral ophthalmoplegia, absent upgaze, and globe infraduction. CFEOM3 is a more variable phenotype that can include unilateral disease, absent ptosis, residual upgaze, and/or orthotropia. Most cases of...

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Identifiers

PMID: 33251926
DOI: 10.1080/13816810.2020.1852576
PMCID: PMC7987873

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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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