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

Tukel, T; Uzumcu, A; Gezer, A; Kayserili, H; Apak, MY; Uyguner, ZEHRA; Gultekin, SH; Hennies, HC; Nurnberg, P; Desnick, RJ; Wollnik, B

doi:10.1136/jmg.2004.026138

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, Scopus)

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.