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Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management

22 Oct 2022

Abstract excerpt

Congenital fibrosis of the extraocular muscles (CFEOM) is a genetic disorder belonging to the congenital cranial dysinnervation disorders and is characterized by nonprogressive restrictive ophthalmoplegia. It is phenotypically and genotypically heterogeneous. At least seven causative genes and one locus are responsible for the five subtypes, named CFEOM-1 to CFEOM-5. This review summarizes the currently available...

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PMID: 36360333
DOI: 10.3390/children9111605

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