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Journal article

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.

Abstract:

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 mutations, of which 22 are germline, have been reported and 97% of these are inactivating ...

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Publication status:
Published

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Authors


Bradley, KJ More by this author
Carpten, JD More by this author
Cavaco, BM More by this author
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Journal:
Journal of internal medicine
Volume:
257
Issue:
1
Pages:
18-26
Publication date:
2005-01-05
DOI:
EISSN:
1365-2796
ISSN:
0954-6820
URN:
uuid:a74d6bf4-dc8c-4584-b929-48afc44bd15a
Source identifiers:
16045
Local pid:
pubs:16045

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