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, sa.5, ss.408-415, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 42 Sayı: 5
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1136/jmg.2004.026138
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.408-415
  • İstanbul Üniversitesi Adresli: Evet

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.