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Article

Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles.

The British journal of ophthalmology - 1 Jun 1998

Reck A C, Manners R, Hatchwell E

Abstract excerpt

BACKGROUND/AIMS: Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant, non-progressive disorder characterised by congenital ptosis and external ophthalmoplegia. CFEOM has previously been divided into several clinical entities; general fibrosis syndrome, strabismus fixus, vertical retraction syndrome, and congenital fibrosis of the inferior rectus. The purpose of this study was to...

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Identifiers

PMID: 9797671
DOI: 10.1136/bjo.82.6.676
PMCID: PMC1722617

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Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles.PMID 9797671Read ↗

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Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to ManagementSemantic proximity Read ↗

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A novel variant of NEMF in a family with congenital fibrosis of the extraocular muscles: a case report and literature reviewSemantic proximity Read ↗

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Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).Semantic proximity Read ↗

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