Article
Nail-patella syndrome. Overview on clinical and molecular findings.
Pediatric nephrology (Berlin, Germany) - 1 Sept 2002
Bongers Ernie M H F, Gubler Marie-Claire, Knoers Nine V A M
Abstract excerpt
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns, dysplasia of the elbows, and frequently glaucoma and progressive nephropathy. The recent identification of the causative gene for this syndrome has initiated further studies of the phenotype and molecular pathogenesis of kidney disease in NPS. The gene...
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