PhenomeGene — Human Disease Gene Website SeriesLAMB2

Publications

Suzuki R, et al. Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.Kidney Int Rep, 8: 1811-1821, 2023. PMID: 37705905.

Zhu V, et al. Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis. Pediatr Nephrol, 39: 655-679, 2024. PMID: 37578539.

Zenker M, et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.Hum Mol Genet, 13: 2625-2632, 2004. PMID: 15367484.

Wuhl E, et al. Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A, 143: 311-319, 2007. PMID: 17256789.

Gooley K, et al. A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.Ophthalmic Genet, 44: 417-422, 2023. PMID: 37537573.

Aumailley M. The laminin family. Cell Adh Migr, 7: 48-55, 2013. PMID: 23263632.

Matejas V, et al. Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat, 31: 992-1002, 2010. PMID: 20556798.

Nagano C, et al. Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep, 10: 270, 2020. PMID: 31937884.

Schapiro D, et al. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant, 34: 474-485, 2019. PMID: 30295827.

Funk SD, Lin MH, Miner JH: Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane.Matrix Biol, 71-72: 250-261, 2018. PMID: 29673759.