Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

Volume: 73, Issue: 3, Pages: 400 - 403
Published: Mar 1, 2019
Abstract
Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995). Basic research and clinical studies have provided important insights about genotype-phenotype correlations. This knowledge allows personalized genetic (risk) counseling and should lead to changes in the advice given to patients. A patient who...
Paper Details
Title
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling
Published Date
Mar 1, 2019
Volume
73
Issue
3
Pages
400 - 403
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