Article
A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease
1 Sept 1997
Abstract excerpt
BACKGROUND: The renal lesions in tuberous sclerosis complex (TSC) consist in multiple angiomyolipomas, often associated with cysts of variable size. Recently a few TSC patients with early-onset renal cysts resembling the autosomal dominant polycystic kidney disease (ADPKD) have been described. Virtually all of them showed deletions of both TSC2 and PKD1 genes. METHODS: Two unrelated families in which TSC and PKD...
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