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- Title
Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism.
- Authors
Cetani, Filomena; Pardi, Elena; Giovannetti, Anna; Vignali, Edda; Borsari, Simona; Golia, Franco; Cianferotti, Luisella; Viacava, Paolo; Miccoli, Paolo; Gasperi, Maurizio; Pinchera, Aldo; Marcocci, Claudio
- Abstract
Familial hyperparathyroidism may occur as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2A), hyperparathyroidism-jaw tumour (HPT-JT) syndrome and familial isolated hyperparathyroidism (FIHP). It is unclear whether the latter is a distinct genetic entity or a variant of MEN1 or HPT-JT, where, because of reduced penetrance, only primary hyperparathyroidism (PHPT) is present. In the present study, we describe two unrelated Italian kindreds with FIHP, in which the clinical, histopathological and genetic analyses of the MEN1 gene and HPRT2 locus at 1q21-32 suggest that both might be a variant of MEN1 and HPT-JT syndromes.
- Publication
Clinical endocrinology, 2002, Vol 56, Issue 4, p457
- ISSN
0300-0664
- Publication type
Journal Article
- DOI
10.1046/j.1365-2265.2002.01502.x