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Article

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

Endocrine journal - 1 Jan 2015

Shibata Yusuke, Yamazaki Masanori, Takei Masahiro, Uchino Shinya, Sakurai Akihiro, Komatsu Mitsuhisa

Abstract excerpt

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant hereditary tumor syndrome characterized by synchronous or metachronous occurrence of primary hyperparathyroidism (PHPT), ossifying fibroma of the maxilla and/or mandible, renal tumor and uterine tumors. Early diagnosis o...

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Source

Identifiers

PMID: 25959515
DOI: 10.1507/endocrj.EJ15-0057

Genes

CDC73
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-25959515-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

Related research

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Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel CDC73 mutation.PMID 25959515Read ↗

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

A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome.Semantic proximity Read ↗

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

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.Semantic proximity Read ↗

Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing.Semantic proximity Read ↗

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

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

[CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases].Semantic proximity Read ↗

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

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

HRPT2- (CDC73) RELATED HEREDITARY HYPERPARATHYROIDISM: A CASE SERIES FROM WESTERN INDIA.Semantic proximity Read ↗

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