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A broad clinical spectrum of PLC epsilon 1-related kidney disease and intrafamilial variability

dc.contributor.authorYilmaz, Esra Karabag
dc.contributor.authorBenzer, Meryem
dc.contributor.authorAkinci, Nurver
dc.contributor.authorKILIÇ, BELTİNGE DEMİRCİOĞLU
dc.contributor.authorKARABAY BAYAZIT, AYSUN
dc.contributor.authorCanpolat, Nur
dc.contributor.authorGÜLHAN, BORA
dc.contributor.authorSaygili, Seha
dc.contributor.authorÖZALTIN, FATİH
dc.contributor.authorCaliskan, Salim
dc.contributor.authorTOPALOĞLU, REZAN
dc.contributor.authorNayir, Ahmet
dc.contributor.authorAgbas, Ayse
dc.contributor.authorYILDIZ, GİZEM
dc.contributor.authorTekcan, Demet
dc.contributor.authorNalcacioglu, Hulya
dc.contributor.authorKALYONCU, MUKADDES
dc.contributor.authorKAVAZ TUFAN, ASLI
dc.contributor.authorGÖKNAR, NİLÜFER
dc.date.accessioned2022-02-18T10:13:47Z
dc.date.available2022-02-18T10:13:47Z
dc.identifier.citationYilmaz E. K. , Saygili S., GÜLHAN B., Canpolat N., KARABAY BAYAZIT A., KILIÇ B. D. , Akinci N., Benzer M., GÖKNAR N., KAVAZ TUFAN A., et al., "A broad clinical spectrum of PLC epsilon 1-related kidney disease and intrafamilial variability", PEDIATRIC NEPHROLOGY, 2022
dc.identifier.issn0931-041X
dc.identifier.othervv_1032021
dc.identifier.otherav_87bf3035-b774-44e9-9801-4a56fbd067ea
dc.identifier.urihttp://hdl.handle.net/20.500.12627/178826
dc.identifier.urihttps://doi.org/10.1007/s00467-021-05371-7
dc.description.abstractBackground The phenotypic and genotypic spectrum and kidney outcome of PLC epsilon 1 -related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLC epsilon 1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome.
dc.language.isoeng
dc.subjectKlinik Tıp
dc.subjectPEDİATRİ
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectÜROLOJİ VE NEFROLOJİ
dc.subjectKlinik Tıp (MED)
dc.subjectHealth Sciences
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectUrology
dc.subjectNephrology
dc.subjectPediatrics
dc.subjectNefroloji
dc.subjectİç Hastalıkları
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectDahili Tıp Bilimleri
dc.titleA broad clinical spectrum of PLC epsilon 1-related kidney disease and intrafamilial variability
dc.typeMakale
dc.relation.journalPEDIATRIC NEPHROLOGY
dc.contributor.departmentİstanbul Teknik Üniversitesi , ,
dc.contributor.firstauthorID3134335


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