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Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.

Abstract:

The syndrome of hereditary hyperparathyroidism and jaw tumors (HPT-JT) is characterized by inheritance, in an autosomal dominant pattern, of recurrent parathyroid adenomas, fibro-osseous tumors of the mandible and/or maxilla, Wilms tumor, and parathyroid carcinoma. This syndrome is clinically and genetically distinct from other endocrine neoplasia syndromes and appears to result from mutation of an endocrine tumor gene designated "HRPT2." We studied five HPT-JT families (59 persons, 20 affect...

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Publication status:
Published

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Journal:
American journal of human genetics
Volume:
56
Issue:
4
Pages:
944-950
Publication date:
1995-04-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:154e52ab-d4c0-42e6-9b72-c6a7e5f36465
Source identifiers:
14324
Local pid:
pubs:14324

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