Article
A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Nov 2006
Matejas Verena, Al-Gazali Lihadh, Amirlak Iradj, Zenker Martin
Abstract excerpt
BACKGROUND: Pierson syndrome (OMIM 609049) is a severe congenital oculorenal disorder with early lethality. The condition is caused by mutations in the LAMB2 gene leading to complete loss of function of the gene product laminin beta2, an essential component of the glomerular and other basement membranes. METHODS: We present a non-consanguineous family with seven offspring affected by childhood-onset nephrotic...
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