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Article

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.

Orphanet journal of rare diseases - 15 Aug 2024

Wu Jin, Huang Lijuan, Zhou Yunyu, Xie Yan, Mo Tong, Li Ningdong

Abstract excerpt

OBJECTIVE: This study aimed to describe the clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles (CFEOM), and to evaluate the phenotype-genotype correlations in these patients. METHODS: This was a retrospective study. Patients with CFEOM underwent detailed ophthalmic examinations and magnetic resonance imaging (MRI). Panel-based next-generation sequencing...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39148141
DOI: 10.1186/s13023-024-03206-w
PMCID: PMC11325808

Genes

KIF21A
TUBB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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