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Article

Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.

Endocrine-related cancer - 1 Dec 2008

Masi Giulia, Barzon Luisa, Iacobone Maurizio, Viel Giovanni, Porzionato Andrea, Macchi Veronica, De Caro Raffaele, Favia Gennaro, Palù Giorgio

Abstract excerpt

CDC73 (HRPT2) germline mutations are responsible for more than half of cases of hyperparathyroidism-jaw tumor syndrome (HPT-JT) and for a subset of familial isolated HPT (FIHP). We performed a clinical, genetic, and histopathologic study in three unrelated Italian kindreds with HPT-JT and FIHP. We identified three germline inactivating mutations of the CDC73 gene in the probands and affected patients of the three...

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Share to Hyperparathyroidism, Primary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18755853
DOI: 10.1677/ERC-08-0066

Genes

CDC73

Provenance

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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Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.PMID 18755853Read ↗

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