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Article

Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism.

Clinical endocrinology - 1 Apr 2002

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 excerpt

OBJECTIVES: 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...

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Source

Identifiers

PMID: 11966738
DOI: 10.1046/j.1365-2265.2002.01502.x

Genes

MEN1
PTH
PYGM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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