Microcoria-congenital nephrotic syndrome is an autosomal recessive disorder caused by mutations of laminin beta-2, an essential component of mature glomerular laminin located in the glomerular basement membrane. The clinical course is characterized by severe proteinuria and early death.
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None (2006) The glomerular basement membrane: not gone, just forgotten. |
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Hasselbacher K et al. (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. |
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OMIM.ORG article Omim 609049 |