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Article

Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism.

Journal of the American College of Surgeons - 1 May 2018

El Lakis Mustapha, Nockel Pavel, Gaitanidis Apostolos, Guan Bin, Agarwal Sunita, Welch James, Simonds William F, Weinstein Lee, Marx Stephen, Nilubol Naris, Patel Dhaval, Merkel Roxanne, Tirosh Amit, Kebebew Electron

Abstract excerpt

BACKGROUND: Approximately 10% of patients with primary hyperparathyroidism (PHPT) have hereditary disease. Hereditary PHPT may be syndromic (MEN1, 2, and 4 and hyperparathyroidism-jaw tumor syndrome) or non-syndromic (familial isolated PHPT). There are limited data on the probability of testing positive for genetic mutation based on clinical presentation. The aim of this study was to determine potential...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29408534
DOI: 10.1016/j.jamcollsurg.2018.01.007
PMCID: PMC5924607

Genes

MEN1
CDC73
GCM2

Provenance

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