Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

by Lena Obeidova, Tomas Seeman, Filip Fencl, Kveta Blahova, Jan Hojny, Veronika Elisakova, Jana Reiterova, Jitka Stekrova
Published 2020-01-01

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report

by Veronika Elisakova, Miroslav Merta, Jana Reiterova, Alica Baxova, Jaroslav Kotlas, Katerina Hirschfeldova, Lena Obeidova, Vladimir Tesar, Jitka Stekrova
Published 2018-07-01