Article
Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis.
Pediatric nephrology (Berlin, Germany) - 1 Jun 2000
Kashtan C E
Abstract excerpt
Alport syndrome is a primary genetic disease of basement membranes, manifested clinically as a progressive nephropathy variably associated with sensorineural deafness and a plethora of ocular abnormalities. The long-recognized phenotypic heterogeneity of Alport syndrome may be considered on several levels, including basement membrane biochemistry, basement membrane ultrastructure, the natural history of the...
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