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

dc.contributor.authorHennies, HC
dc.contributor.authorUyguner, O
dc.contributor.authorGultekin, SH
dc.contributor.authorNurnberg, P
dc.contributor.authorWollnik, B
dc.contributor.authorTukel, T
dc.contributor.authorUzumcu, A
dc.contributor.authorGezer, A
dc.contributor.authorKayserili, H
dc.contributor.authorDesnick, RJ
dc.contributor.authorApak, MY
dc.date.accessioned2021-03-04T19:01:56Z
dc.date.available2021-03-04T19:01:56Z
dc.date.issued2005
dc.identifier.citationTukel T., Uzumcu A., Gezer A., Kayserili H., Apak M., Uyguner O., Gultekin S., Hennies H., Nurnberg P., Desnick R., et al., "A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter", JOURNAL OF MEDICAL GENETICS, cilt.42, ss.408-415, 2005
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_8dc50a0c-bf54-47fc-8642-65d466e37834
dc.identifier.urihttp://hdl.handle.net/20.500.12627/95833
dc.identifier.urihttps://doi.org/10.1136/jmg.2004.026138
dc.description.abstractBackground: 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.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectSağlık Bilimleri
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectTıp
dc.subjectYaşam Bilimleri
dc.titleA new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.department, ,
dc.identifier.volume42
dc.identifier.issue5
dc.identifier.startpage408
dc.identifier.endpage415
dc.contributor.firstauthorID175139


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