Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.

Anna EichingerSabine PonselCarsten BergmannRoman GünthnerJulia HoefeleKerstin AmannBaerbel Lange-Sperandio

Published in: Pediatric nephrology (Berlin, Germany) (2018)

A profound search for the cause of CNS is necessary but has its limitations. The therapeutic strategy should be adapted when the etiology remains unclear.

Keyphrases

copy number
early onset
intellectual disability
cancer therapy
blood brain barrier
drug delivery
genome wide