A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.

doi:10.1001/archopht.118.8.1090

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Article

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2000

Sener E C, Lee B A, Turgut B, Akarsu A N, Engle E C

Abstract excerpt

OBJECTIVES: To describe the phenotype of a Turkish family with variably expressed congenital fibrosis of the extraocular muscles (CFEOM), and to determine the genetic location of their disorder. METHODS: Participants were examined and had blood extracted for genetic analysis. The clinical features of the family's disorder were studied, and the disorder was tested for linkage to the 3 known CFEOM loci (CFEOM1,...

Topics

Blepharoptosis
Chromosome Mapping
Chromosomes, Human, Pair 12
DNA
DNA, Satellite
Female
Fibrosis
Genetic Linkage
Humans
Male
Oculomotor Muscles
Ophthalmoplegia
Pedigree
Phenotype
Retrospective Studies
Syndrome
Turkey

Source

Open in PubMed

Identifiers

PMID: 10922204
DOI: 10.1001/archopht.118.8.1090

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