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Two female siblings with a previously unreported MCA/MR syndrome: Pre and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles

dc.contributor.authorSeven, Mehmet
dc.contributor.authorSoylemez, Mehmet Mahfuz
dc.contributor.authorDeviren, Ayhan
dc.contributor.authorYuksel, A
dc.contributor.authorHacihanefioglu, S
dc.contributor.authorUlutin, T
dc.contributor.authorCenani, A
dc.date.accessioned2021-03-02T23:12:16Z
dc.date.available2021-03-02T23:12:16Z
dc.date.issued1999
dc.identifier.citationYuksel 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.issn1015-8146
dc.identifier.othervv_1032021
dc.identifier.otherav_1109c165-3116-44a1-8581-4a3f0a7be2e7
dc.identifier.urihttp://hdl.handle.net/20.500.12627/16953
dc.description.abstractTwo 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.isoeng
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectBİYOTEKNOLOJİ VE UYGULAMALI MİKROBİYOLOJİ
dc.subjectMikrobiyoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTIBBİ ETİK
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectTıp Eğitimi
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectBiyoteknoloji
dc.titleTwo female siblings with a previously unreported MCA/MR syndrome: Pre and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles
dc.typeMakale
dc.relation.journalGENETIC COUNSELING
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume10
dc.identifier.issue3
dc.identifier.startpage265
dc.identifier.endpage269
dc.contributor.firstauthorID14882


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