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Journal article

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.

Abstract:

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterized by the occurrence of parathyroid tumours and fibro-osseous tumours of the jaw bones. Some HPT-JT patients may also develop renal abnormalities, which include Wilms' tumours, hamartomas and polycystic disease. The HPT-JT gene has been mapped to chromosome 1q25-q31, and we report the clinical and genetic findings in a kindred from central Portugal. HPT-JT was observed in six members from three ge...

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Publication status:
Published

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Publisher copy:
10.1093/qjmed/94.4.213

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Journal:
QJM : monthly journal of the Association of Physicians
Volume:
94
Issue:
4
Pages:
213-222
Publication date:
2001-04-05
DOI:
EISSN:
1460-2393
ISSN:
1460-2725
URN:
uuid:5d24cad0-ab27-464d-97dc-42f3b7090e09
Source identifiers:
16616
Local pid:
pubs:16616

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