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Mutations In Plce1 Are A Major Cause Of Isolated Diffuse Mesangial Sclerosis (Idms)
(Oxford Univ Press, 2008)
Background and objectives. Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides ...
Specific Podocin Mutations Correlate With Age Of Onset In Steroid-Resistant Nephrotic Syndrome
(Amer Soc Nephrology, 2008)
Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype-phenotype correlation between podocin mutations and age of ...
Thirteen Novel Nphs1 Mutations In A Large Cohort Of Children With Congenital Nephrotic Syndrome
(Oxford Univ Press, 2008)
Background. Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of ...