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. , ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.42, ss.408-415, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 42 Konu: 5
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1136/jmg.2004.026138
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.408-415

Özet

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.