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 ...
Expand abstract
- Publication status:
- Published
Actions
Authors
Bibliographic Details
- Journal:
- Journal of internal medicine
- Volume:
- 257
- Issue:
- 1
- Pages:
- 18-26
- Publication date:
- 2005-01-01
- DOI:
- EISSN:
-
1365-2796
- ISSN:
-
0954-6820
- Source identifiers:
-
16045
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:16045
- UUID:
-
uuid:a74d6bf4-dc8c-4584-b929-48afc44bd15a
- Local pid:
- pubs:16045
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2005
If you are the owner of this record, you can report an update to it here: Report update to this record