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

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

ARCHIVES OF OPHTHALMOLOGY, vol.118, no.8, pp.1090-1097, 2000 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 118 Issue: 8
  • Publication Date: 2000
  • Doi Number: 10.1001/archopht.118.8.1090
  • Journal Name: ARCHIVES OF OPHTHALMOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1090-1097
  • Hacettepe University Affiliated: Yes

Abstract

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.