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- Title
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
- Authors
Pannett, A A J; Kennedy, A M; Turner, J J O; Forbes, S A; Cavaco, B M; Bassett, J H D; Cianferotti, L; Harding, B; Shine, B; Flinter, F; Maidment, C G H; Trembath, R; Thakker, R V
- Abstract
Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterized by uniglandular or multiglandular parathyroid tumours that occur in the absence of other endocrine tumours. The disorder may represent either an early stage of multiple endocrine neoplasia type 1 (MEN1), or an allelic variant of MEN1, or a distinct entity involving another locus. We have explored these possibilities in seven families in whom primary hyperparathyroidism occurred as the sole endocrinopathy.
- Publication
Clinical endocrinology, 2003, Vol 58, Issue 5, p639
- ISSN
0300-0664
- Publication type
Journal Article
- DOI
10.1046/j.1365-2265.2003.01765.x