[HTML][HTML] Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease
Purpose To investigate the prevalence of biallelic PKD1 and PKD2 variants underlying very
early onset (VEO) polycystic kidney disease (PKD) in a large international pediatric cohort
referred for clinical indications over a 10-year period (2010–2020). Methods All samples
were tested by Sanger sequencing and multiplex ligation-dependent probe amplification
(MLPA) of PKD1 and PKD2 genes and/or a next-generation sequencing panel of 15
additional cystic genes including PKHD1 and HNF1B. Two patients underwent exome or …
early onset (VEO) polycystic kidney disease (PKD) in a large international pediatric cohort
referred for clinical indications over a 10-year period (2010–2020). Methods All samples
were tested by Sanger sequencing and multiplex ligation-dependent probe amplification
(MLPA) of PKD1 and PKD2 genes and/or a next-generation sequencing panel of 15
additional cystic genes including PKHD1 and HNF1B. Two patients underwent exome or …
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