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Article

A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome.

Endocrine pathology - 1 Jun 2016

Bellido Virginia, Larrañaga Ihintza, Guimón Maite, Martinez-Conde Rafael, Eguia Asier, Perez de Nanclares Gustavo, Castaño Luis, Gaztambide Sonia

Abstract excerpt

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare variant of familial hyperparathyroidism, characterized by primary hyperparathyroidism (PHPT) due to one or multiple parathyroid adenomas, and benign tumours of the mandible and maxilla. It has an autosomal dominant pattern of inheritance, and is associated with mutations that deactivate the cell division cycle protein 73 homolog (CDC73) gene, also known...

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Source

Identifiers

PMID: 26995009
DOI: 10.1007/s12022-016-9427-6

Genes

CDC73

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome.PMID 26995009Read ↗

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Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation.Semantic proximity Read ↗

A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome.Semantic proximity Read ↗

A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome.Semantic proximity Read ↗

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrumSemantic proximity Read ↗

Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.Semantic proximity Read ↗

Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar LocalizationSemantic proximity Read ↗

Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.Semantic proximity Read ↗

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CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.Semantic proximity Read ↗

Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: implications for management and age-appropriate testing of relatives at risk.Semantic proximity Read ↗

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