Clinical feature: 

Definition: Finnish congenital nephrosis is an autosomal recessive disease caused by mutations of the nephrin gene.

Literature: 

Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
Aya K et al. (2000) Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
Beltcheva O et al. (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Jones N et al. (2006) Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes.
Lenkkeri U et al. (1999) Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Liu G et al. (2003) Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.
Liu L et al. (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
Wartiovaara J et al. (2004) Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography.