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Article

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort

21 Sept 2023

Abstract excerpt

Background Approximately 10% of primary hyperparathyroidism cases are hereditary, due to germline mutations in certain genes. Although clinically relevant, a systematized genetic diagnosis is missing due to a lack of firm evidence regarding individuals to test and which genes to evaluate. Methods A customized gene panel (AIP, AP2S1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, GNA11, MEN1, PTH, RET, and...

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PMID: 37810884
DOI: 10.3389/fendo.2023.1244361

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