dc.contributor.author | Cenani, A | |
dc.contributor.author | Kartal, A | |
dc.contributor.author | Suyugul, N | |
dc.contributor.author | Hacihanefioglu, S | |
dc.contributor.author | Seven, M | |
dc.contributor.author | Suyugul, Z | |
dc.date.accessioned | 2021-03-06T20:35:55Z | |
dc.date.available | 2021-03-06T20:35:55Z | |
dc.date.issued | 1996 | |
dc.identifier.citation | Suyugul Z., Seven M., Hacihanefioglu S., Kartal A., Suyugul N., Cenani A., "Anophthalmia-Waardenburg syndrome: A report of three cases", AMERICAN JOURNAL OF MEDICAL GENETICS, cilt.62, ss.391-397, 1996 | |
dc.identifier.issn | 0148-7299 | |
dc.identifier.other | av_fae8ac14-f0df-45eb-839f-b7fb1ce83b38 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/164265 | |
dc.description.abstract | We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents, We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome, This is an extremely rare autosomal recessive syndrome. (C) 1996 Wiley-Liss, Inc. | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.title | Anophthalmia-Waardenburg syndrome: A report of three cases | |
dc.type | Makale | |
dc.relation.journal | AMERICAN JOURNAL OF MEDICAL GENETICS | |
dc.contributor.department | , , | |
dc.identifier.volume | 62 | |
dc.identifier.issue | 4 | |
dc.identifier.startpage | 391 | |
dc.identifier.endpage | 397 | |
dc.contributor.firstauthorID | 117404 | |