| Literature DB >> 17268401 |
T Culty1, V Molinie, T Lebret, L Savareux, M Souid, M Delahousse, H Botto.
Abstract
A 48-year-old woman with a history of autosomal-dominant polycystic kidney disease (ADPKD), was found to have multiple renal angiomyolipomas on a pathological examination after nephrectomy. The clinical and pathological presentation is consistent with the diagnosis of TSC2/PKD1 contiguous gene syndrome, caused by the simultaneous loss of TSC2 and PKD1, the two major genes for tuberous sclerosis complex and ADPKD.Entities:
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Year: 2006 PMID： 17268401
Source DB: PubMed Journal: Minerva Urol Nefrol ISSN： 0393-2249 Impact factor: 3.720