dc.contributor.author | BATU OTO, Bilge | |
dc.contributor.author | Toptan, Handan Hakyemez | |
dc.contributor.author | Kizilay, Osman | |
dc.contributor.author | KILIÇARSLAN, Oğuzhan | |
dc.contributor.author | Celik, Gokhan | |
dc.date.accessioned | 2021-03-15T15:15:04Z | |
dc.date.available | 2021-03-15T15:15:04Z | |
dc.identifier.citation | Celik G., BATU OTO B., Kizilay O., KILIÇARSLAN O., Toptan H. H. , "An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome", OPHTHALMIC GENETICS, 2021 | |
dc.identifier.issn | 1381-6810 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_c1039b79-b27a-46a8-b1b0-8a90a98a333b | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/167860 | |
dc.identifier.uri | https://doi.org/10.1080/13816810.2021.1888130 | |
dc.description.abstract | Purpose: Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4(th) chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye. | |
dc.language.iso | eng | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Cerrahi Tıp Bilimleri | |
dc.subject | Göz Hastalıkları ve Cerrahisi | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Genetics | |
dc.subject | Molecular Biology | |
dc.subject | Ophthalmology | |
dc.subject | Genetics (clinical) | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Life Sciences | |
dc.subject | Health Sciences | |
dc.subject | Optometry | |
dc.subject | Tıp | |
dc.subject | Klinik Tıp | |
dc.subject | OFTALMOLOJİ | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.title | An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome | |
dc.type | Makale | |
dc.relation.journal | OPHTHALMIC GENETICS | |
dc.contributor.department | Istanbul Zeynep Kamil Maternity & Children''s Diseases Training & Research Hospital , , | |
dc.contributor.firstauthorID | 2529726 | |