Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.

Xueling HuWei LinZengyuan LuoYong ZhongXiangcheng XiaoRong Tang

Published in: Molecular genetics & genomic medicine (2024)

Here, we further expand the phenotypic spectrum of FSGS. Genetic screening especially PAX2 mutation is recommended in patients with adult-onset FSGS of unknown etiology.

Keyphrases

genome wide
copy number
diabetic nephropathy
gene expression