Article
Retinitis pigmentosa and renal failure in a patient with mutations in INVS.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jul 2006
O'Toole John F, Otto Edgar A, Frishberg Yaacov, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive disease, which is the most common genetic cause of end-stage renal disease in the first three decades of life. The disease is caused by mutations in the NPHP 1-5 genes, and is referred to as NPHP types 1-5, respectively. The association of NPHP and retinitis pigmentosa (RP) is known as Senior-Loken syndrome (SLS). The RP is associated with 10% of cases...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.