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Article

Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.

Hormones & cancer - 1 Oct 2020

Khairi Shafaq, Osborne Jenae, Jacobs Michelle F, Clines Gregory T, Miller Barbra S, Hughes David T, Else Tobias

Abstract excerpt

Primary hyperparathyroidism (pHPT) is associated with familial syndromes such as multiple endocrine neoplasia type 1 (MEN1), 2A (MEN2A), MEN-like syndromes (CDKN1B), and CDC73-related disorder (hyperparathyroidism - jaw tumor syndrome (HPJT)). Familial hypocalciuric hypercalcemia (FHH) caused by CASR variants is an important differential diagnosis for pHPT. In order to evaluate the contribution of hereditary...

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Topics

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Share to CASR gene
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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: 32761341
DOI: 10.1007/s12672-020-00394-2
PMCID: PMC7945006

Genes

CASR
CDC73
CDKN1B
MEN1
RET
PTH

Provenance

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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