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Article

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

BMC medical genetics - 3 Aug 2017

Guarnieri Vito, Seaberg Raewyn M, Kelly Catherine, Jean Davidson M, Raphael Simon, Shuen Andrew Y, Baorda Filomena, Palumbo Orazio, Scillitani Alfredo, Hendy Geoffrey N, Cole David E C

Abstract excerpt

BACKGROUND: Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. METHODS: The proband had primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Her father and...

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Identifiers

PMID: 28774260
DOI: 10.1186/s12881-017-0445-0
PMCID: PMC5543551

Genes

CDC73

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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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