A Clinically Variant Fibrosis Syndrome in a Turkish Family Maps to the CFEOM1 Locus on Chromosome 12

Archives of Ophthalmology

Volumn 118, Issue 8, 2000, Pages 1090-1097

  Sener, Emin C ^b   Lee, Bjorn A ^a   Turgut, Banu ^b   Akarsu, A Nurten ^b   Engle, Elizabeth C ^a,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HACETTEPE UNIVERSITY   (Turkey)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BLOOD SAMPLING; CHROMOSOME 12; EXTRAOCULAR MUSCLE; FEMALE; FIBROSIS; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; TURKEY (REPUBLIC);

EID: 0033900167     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.118.8.1090     Document Type: Article

References (13)

1. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12
2. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement, and physical mapping on chromosome 12
3. Congenital fibrosis of the extraocular muscles type 2 (CFEOM2), an inherited exotropic strabismus fixus, maps to distal 11q13
4. CFEOM3: A new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3
5. Faster sequential genetic linkage computations
6. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
7. General fibrosis syndrome
8. General fibrosis syndrome
9. Familial involvement in congenital fibrosis syndrome, a rare association with myopia
10. Congenital fibrosis of the vertically acting extraocular muscles: A new group of dominantly inherited ocular fibrosis with radiologic findings
11. Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM)
12. Neural misdirection in congenital ocular fibrosis syndrome: Implications and pathogenesis
13. Fibrose du muscle droit inferieur, anomalies d'insertions et aplasies musculaires, une cause rare de troubles hereditaires non progressifs et congenitaux de la motilite oculaire