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Article

Clinical and MRI differences in congenital fibrosis of extraocular muscles patients with KIF21A and TUBB3 variants.

Japanese journal of ophthalmology - 1 Jan 2026

Wang Dan, Jia Hong-Yan, Liang Yi, Ma Qian, Chang Qing-Lin, Zhang Ran-Ran, Jiao Yong-Hong

Abstract excerpt

PURPOSE: To compare the clinical and neuroimaging phenotypes in Chinese patients with congenital fibrosis of extraocular muscles (CFEOM) harboring KIF21A versus TUBB3 variants. STUDY DESIGN: Retrospective, observational case series. METHODS: A retrospective review of 37 CFEOM patients harboring mutations of KIF21A (n = 25) and TUBB3 (n = 12) with clinical examinations was performed. MRI was used to evaluate...

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Source

Identifiers

PMID: 40847091
DOI: 10.1007/s10384-025-01263-7

Genes

KIF21A
TUBB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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