Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00467-023-06223-2.pdf
Reference5 articles.
1. Joshi A, Sinha A, Sharma A, Shamim U, Uppilli B, Sharma P et al (2021) NephQuest Consortium. Next- generation sequencing for congenital nephrotic syndrome: a multi-center cross-sectional study from India. Indian Pediatr 58:445–451
2. Taniguchi Y, Nagano C, Sekiguchi K, Tashiro A, Sugawara N, Sakaguchi H et al (2021) Clear evidence of LAMA5 gene biallelic truncating variants causing infantile nephrotic syndrome. Kidney360 2:1968–1978
3. Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R et al (2019) Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant 34:485–493
4. Jones LK, Lam R, McKee KK, Aleksandrova M, Dowling J, Alexander SI et al (2020) A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development 147:dev189183
5. Sunwoo Y, Choi N, Min J, Kim J, Ahn YH, Kang HG (2023) Case report: genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome. Front Pediatr 10:1054082
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