Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

“… 10 Finally, we analyzed 108 patients with clinical data. 1 , 2 , 7 , 8 , 9 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41

Figure 1 Flowchart of the literature search. HGMD, Human Gene Mutation Database.

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“…In recent years, the widespread use of NGS has helped the discovery of pathogenic variants of LAMB2 in patients with isolated nephropathy, such as CNS without ocular symptoms and steroid-resistant nephrotic syndrome (SRNS) developing after infancy. 6 , 7 , 8 In 2010, Matejas et al. 9 showed a genotype-phenotype correlation using box-and-whisker plots with onset age of proteinuria and ESKD as response variables in their systematic review of 51 previously reported cases.…”