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

Tarih
2005
Yazar
Hennies, HC
Uyguner, O
Gultekin, SH
Nurnberg, P
Wollnik, B
Tukel, T
Uzumcu, A
Gezer, A
Kayserili, H
Desnick, RJ
Apak, MY
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/95833
https://doi.org/10.1136/jmg.2004.026138
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