Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling
Author:
Funder
ZonMw-NWO
Publisher
Elsevier BV
Subject
Nephrology
Reference12 articles.
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2. Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice;Rood;Nephrol Dial Transplant,2012
3. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome;Sadowski;J Am Soc Nephrol,2015
4. MAGI2 mutations cause congenital nephrotic syndrome;Bierzynska;J Am Soc Nephrol,2017
5. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome;Braun;Nat Genet,2016
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1. Steroid-Resistant Nephrotic Syndrome is Associated with a Unique Genetic Profile in a Highly Admixed Pediatric Population;Kidney International Reports;2024-09
2. Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases;Orphanet Journal of Rare Diseases;2024-05-24
3. Unveiling Nephrotic Syndrome: Causes, Pathogenesis, and Treatment;International Journal of Culture and Modernity;2024-01-19
4. The hereditary nephrotic syndrome in children: features of clinical phenotype and genotype, pathogenesis, renal prognosis of isolated and syndromic forms;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2023-04-26
5. Genetic nephrotic syndrome associated with disturbed function of glomerular slit membrane and podocyte cytoskeleton in children;Clinical and Experimental Nephrology;2022-12-08
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