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A NEW FAMILY WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME

dc.contributor.authorCelkan, T.
dc.contributor.authorSonmez, E.
dc.contributor.authorKannengiesser, C.
dc.contributor.authorOzdemr, N.
dc.contributor.authorTuysuz, G.
dc.date.accessioned2021-03-05T19:52:26Z
dc.date.available2021-03-05T19:52:26Z
dc.date.issued2013
dc.identifier.citationTuysuz G., Ozdemr N., Sonmez E., Kannengiesser C., Celkan T., "A NEW FAMILY WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME", GENETIC COUNSELING, cilt.24, ss.393-397, 2013
dc.identifier.issn1015-8146
dc.identifier.othervv_1032021
dc.identifier.otherav_d151540e-c6e5-479e-a4d3-c2f0a83073cf
dc.identifier.urihttp://hdl.handle.net/20.500.12627/138363
dc.description.abstractA new family with hereditary hyperferritinemia cataract syndrome: Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare disorder with an autosomal dominant trait. The disease is defined with early onset cataract and hyperferritinemia without iron overload. Here, we report a new family with three affected members of this syndrome where the proband presented with high ferritin levels. Patients with unexplained high ferritin levels and/or juvenile onset cataract must be evaluated carefully for hereditary hyperferritinemia cataract syndrome.
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectBiyoteknoloji
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.titleA NEW FAMILY WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME
dc.typeMakale
dc.relation.journalGENETIC COUNSELING
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume24
dc.identifier.issue4
dc.identifier.startpage393
dc.identifier.endpage397
dc.contributor.firstauthorID207857


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