Article

Coexistence of KIF21A-related congenital fibrosis of the extraocular muscles type 1 and GJB2 p.Arg75Trp-related hearing loss: a family case report

2026-08-26

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is characterized by congenital, non-progressive ptosis and ophthalmoplegia and is most commonly caused by heterozygous pathogenic variants in KIF21A. The GJB2 c.223C>T (p.Arg75Trp) variant is associated with autosomal dominant hearing loss and may be accompanied by keratinizing skin manifestations....

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Literature Corpus work: 08c355bc-6b4c-5dde-9386-8d7300c82244
DOI: 10.21203/rs.3.rs-10689121/v1

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