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Rare Forms of Hereditary Hypoparathyroidism: Delayed Diagnosis Due To Atypical Disease Onset

2025-12-19

Abstract excerpt

<h4>Background: </h4> Hereditary hypoparathyroidism (hypoPT) is a rare endocrine disorder caused by absent or insufficient parathyroid hormone secretion. Genetic forms are uncommon and frequently underdiagnosed, particularly when clinical onset is atypical. <h4>Purpose:</h4> We present three cases of genetic hypoPT caused by CASR, GNA11, and GATA3 mutations, highlighting diagnostic challenges and management approa...

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Literature Corpus work
2a289b67-fc6f-5d3e-b2a7-faa0e2532d59
DOI
10.20944/preprints202512.1681.v1
Open publication

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Rare Forms of Hereditary Hypoparathyroidism: Delayed Diagnosis Due To Atypical Disease OnsetDOI 10.20944/preprints202512.1681.v1
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