dc.contributor.author | Seven, Mehmet | |
dc.contributor.author | Soylemez, Mehmet Mahfuz | |
dc.contributor.author | Deviren, Ayhan | |
dc.contributor.author | Yuksel, A | |
dc.contributor.author | Hacihanefioglu, S | |
dc.contributor.author | Ulutin, T | |
dc.contributor.author | Cenani, A | |
dc.date.accessioned | 2021-03-02T23:12:16Z | |
dc.date.available | 2021-03-02T23:12:16Z | |
dc.date.issued | 1999 | |
dc.identifier.citation | Yuksel A., Seven M., Deviren A., Soylemez M. M. , Hacihanefioglu S., Ulutin T., Cenani A., "Two female siblings with a previously unreported MCA/MR syndrome: Pre and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles", GENETIC COUNSELING, cilt.10, sa.3, ss.265-269, 1999 | |
dc.identifier.issn | 1015-8146 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_1109c165-3116-44a1-8581-4a3f0a7be2e7 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/16953 | |
dc.description.abstract | Two female siblings with a previously unreported MCA/MR syndrome: Pre- and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles: We report two siblings from non consanguineous parents with a similar MCA/MR syndrome: Pre-and postnatal growth retardation, microcephaly, mental retardation, iris colobomata, facial dysmorphism, spasticity dilated ventricles and abnormal immunoglobulin levels. Review of published reports and the use of the London Dysmorphology Database suggests that these siblings may present a new syndrome. | |
dc.language.iso | eng | |
dc.subject | Temel Bilimler | |
dc.subject | Moleküler Biyoloji ve Genetik | |
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.subject | Biyoteknoloji | |
dc.title | Two female siblings with a previously unreported MCA/MR syndrome: Pre and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles | |
dc.type | Makale | |
dc.relation.journal | GENETIC COUNSELING | |
dc.contributor.department | İstanbul Üniversitesi , , | |
dc.identifier.volume | 10 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 265 | |
dc.identifier.endpage | 269 | |
dc.contributor.firstauthorID | 14882 | |