Congenital nephrotic syndrome type 23 is an autosomal recessive disorder caused by mutations of the KIRREL1 gene.
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Liu G et al. (2003) Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. |
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Solanki AK et al. (2019) Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. |