TSC2/PKD1 contiguous gene syndrome in an adult.
2006
: 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.
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