2. Academic Validation
  3. Genetic disorders of glomerular basement membranes

Genetic disorders of glomerular basement membranes

  • Nephron Clin Pract. 2011;118(1):c9-c18. doi: 10.1159/000320876.
Clifford E Kashtan 1,  Yoav Segal
Affiliations

Affiliation

  • 1 Department of Pediatrics, University of Minnesota Medical School, University of Minnesota Amplatz Children’s Hospital, 420 Delaware Street SE, Minneapolis, MN 55455, USA. [email protected]
PMID: 21071975 DOI: 10.1159/000320876
Abstract

This review provides current information about glomerular disorders that arise directly from inherited abnormalities in extracellular matrix proteins intrinsic to the glomerular basement membrane (Alport syndrome, thin basement membrane nephropathy, HANAC syndrome and Pierson syndrome). The authors also discuss disorders involving genetic defects in cellular proteins that result in structural defects in glomerular basement membranes (MYH9-related disorders, nail-patella syndrome).

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