Article
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.
Journal of internal medicine - 1 Jan 2005
Bradley K J, Hobbs M R, Buley I D, Carpten J D, Cavaco B M, Fares J E, Laidler P, Manek S, Robbins C M, Salti I S, Thompson N W, Jackson C E, Thakker R V
Abstract excerpt
The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumours, which are frequently carcinomas, and ossifying jaw fibromas. In addition, some patients may develop renal tumours and cysts. The gene causing HPT-JT, which is referred to as HRPT2 and is located on chromosome 1q31.2, encodes a 531 amino acid protein called PARAFIBROMIN. To date 42...
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