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

Yazar
Yilmaz, Esra Karabag
Benzer, Meryem
Akinci, Nurver
KILIÇ, BELTİNGE DEMİRCİOĞLU
KARABAY BAYAZIT, AYSUN
Canpolat, Nur
GÜLHAN, BORA
Saygili, Seha
ÖZALTIN, FATİH
Caliskan, Salim
TOPALOĞLU, REZAN
Nayir, Ahmet
Agbas, Ayse
YILDIZ, GİZEM
Tekcan, Demet
Nalcacioglu, Hulya
KALYONCU, MUKADDES
KAVAZ TUFAN, ASLI
GÖKNAR, NİLÜFER
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Özet
Background 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.
Bağlantı
http://hdl.handle.net/20.500.12627/178826
https://doi.org/10.1007/s00467-021-05371-7
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