Novel Mutations in NPHP4 in a Consanguineous Family With Histological Findings of Focal Segmental Glomerulosclerosis
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference37 articles.
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4. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis;Konrad;Hum Mol Genet,1996
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1. Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis‐4;Journal of Clinical Laboratory Analysis;2024-06
2. Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?;Pediatric Nephrology;2023-09-20
3. High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases;Frontiers in Pediatrics;2022-09-22
4. Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis;Kidney International Reports;2022-09
5. Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-07-27
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