A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter


Tukel T., Uzumcu A., Gezer A., Kayserili H., Apak M., Uyguner O., ...More

JOURNAL OF MEDICAL GENETICS, vol.42, no.5, pp.408-415, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 5
  • Publication Date: 2005
  • Doi Number: 10.1136/jmg.2004.026138
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.408-415
  • Istanbul University Affiliated: Yes

Abstract

Background: Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/ U) has not been reported to date.