Congenital nephrotic syndrome type 08
Congenital nephrotic syndrome type 8 is an autosomal recessive disorder caused by mutations of the ARHGDIA gene.
Shibata S et al. (2008) Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease.[^]
Gupta IR et al. (2013) ARHGDIA: a novel gene implicated in nephrotic syndrome.[^]
Gee HY et al. (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.[^]
OMIM.ORG articleOmim 615244 [^]