Article

CYP24A1 and SLC34A1 mutations in five cases with idiopathic infantile hypercalcemia

2022-10-26

Abstract excerpt

<title>Abstract</title> <p>Backgrounds Idiopathic infantile hypercalcemia (IIH) is a rare hereditary disorder caused by <italic>CYP24A1</italic> and <italic>SLC34A1</italic> gene mutations. In this study, the clinical manifestations and molecular aspects of five new Chinese patients were investigated. Results Four patients showed hypercalcemia, hypercalciuria, decreased PTH and bilateral medullary nephrocalcin...

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Literature Corpus work: 6d0bf442-f789-5d45-a898-8d7bd67fbf02
DOI: 10.21203/rs.3.rs-2150486/v1

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