Congenital nephrotic syndrome type 08
Congenital nephrotic syndrome type 8 is an autosomal recessive disorder caused by mutations of the ARHGDIA gene.
Systematic
References:
1. |
Shibata S et al. (2008) Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease. [^] |
2. |
Gupta IR et al. (2013) ARHGDIA: a novel gene implicated in nephrotic syndrome. [^] |
3. |
Gee HY et al. (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. [^] |
4. |
OMIM.ORG article Omim 615244 [^] |
Update: May 9, 2019