dc.contributor.author | Guven, G. | |
dc.contributor.author | Yılmaz, Şafak | |
dc.contributor.author | Yuksel, A. | |
dc.contributor.author | Yosunkaya, E. | |
dc.contributor.author | Karaca, E. | |
dc.contributor.author | Seven, Mehmet | |
dc.date.accessioned | 2021-03-05T09:43:31Z | |
dc.date.available | 2021-03-05T09:43:31Z | |
dc.date.issued | 2011 | |
dc.identifier.citation | Seven M., Yosunkaya E., Yılmaz Ş., Karaca E., Guven G., Yuksel A., "A NEW SYNDROME PRESENTING WITH DYSMORPHIC FACIES, OCULOCUTANEOUS ALBINISM, GLAUCOMA, CRYPTORCHIDISM AND MENTAL RETARDATION", GENETIC COUNSELING, cilt.22, ss.25-34, 2011 | |
dc.identifier.issn | 1015-8146 | |
dc.identifier.other | av_9f471366-4dfe-42e4-af0c-631ee626ad82 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/106923 | |
dc.description.abstract | A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation: We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia, autistic behaviour besides various major and minor craniofacial dysmorphic, skeletal, and neuroimaging findings, and suggest that this case represents a new syndrome not reported previously. | |
dc.language.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Biyoteknoloji | |
dc.subject | BİYOTEKNOLOJİ VE UYGULAMALI MİKROBİYOLOJİ | |
dc.subject | Mikrobiyoloji | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | TIBBİ ETİK | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Temel Tıp Bilimleri | |
dc.subject | Tıp Eğitimi | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Yaşam Bilimleri | |
dc.title | A NEW SYNDROME PRESENTING WITH DYSMORPHIC FACIES, OCULOCUTANEOUS ALBINISM, GLAUCOMA, CRYPTORCHIDISM AND MENTAL RETARDATION | |
dc.type | Makale | |
dc.relation.journal | GENETIC COUNSELING | |
dc.contributor.department | İstanbul Teknik Üniversitesi , Makina , Makina Mühendisliği | |
dc.identifier.volume | 22 | |
dc.identifier.issue | 1 | |
dc.identifier.startpage | 25 | |
dc.identifier.endpage | 34 | |
dc.contributor.firstauthorID | 14914 | |