Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist.

Autor: Calò LA; Nephrology, Dialysis and Transplantation Unit, Kidney Histomorphology and Molecular Biology Laboratory, Department of Medicine-DIMED, University of Padova, Padova, Italy., Palazzo V; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy., Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Anglani F; Nephrology, Dialysis and Transplantation Unit, Kidney Histomorphology and Molecular Biology Laboratory, Department of Medicine-DIMED, University of Padova, Padova, Italy. franca.anglani@unipd.it.
Jazyk: angličtina
Zdroj: Journal of nephrology [J Nephrol] 2021 Aug; Vol. 34 (4), pp. 1327-1330. Date of Electronic Publication: 2020 Sep 14.
DOI: 10.1007/s40620-020-00861-7
Databáze: MEDLINE