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Article

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Clinical endocrinology - 1 Mar 2006

Bradley K J, Cavaco B M, Bowl M R, Harding B, Cranston T, Fratter C, Besser G M, Conceição Pereira M, Davie M W J, Dudley N, Leite V, Sadler G P, Seller A, Thakker R V

Abstract excerpt

OBJECTIVE: To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31.2. HRPT2...

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Identifiers

PMID: 16487440
DOI: 10.1111/j.1365-2265.2006.02460.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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