Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families
Author:
Funder
U.S. Department of Defense
National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00467-023-06134-2.pdf
Reference32 articles.
1. Barnett HL, Edelmann CM, Greifer I (1981) Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A report of the international study of kidney disease in children. Kidney Int 20:765–771. https://doi.org/10.1038/ki.1981.209
2. Leonard MB, Donaldson LA, Ho M, Geary DF (2003) A prospective cohort study of incident maintenance dialysis in children: an NAPRTC study. Kidney Int 63:744–755. https://doi.org/10.1046/j.1523-1755.2003.00788.x
3. Connaughton DM, Kennedy C, Shril S et al (2019) Monogenic causes of chronic kidney disease in adults. Kidney Int 95:914–928. https://doi.org/10.1016/j.kint.2018.10.031
4. Wiggins RC (2007) The spectrum of podocytopathies: A unifying view of glomerular diseases. Kidney Int 71:1205–1214
5. Warejko JK, Tan W, Daga A et al (2018) Whole exome sequencing of patients with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 13:53–62. https://doi.org/10.2215/CJN.04120417
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