Jun 14, 2021

Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings

The Journal of clinical endocrinology and metabolism

Nina Lenherr-Taube, Edwin J Young, Michelle Furman, Yesmino Elia, Esther Assor, David Chitayat, Tami Uster, Susan Kirwin, Katherine Robbins, Kathleen M B Vinette, Alan Daneman, Christian R Marshall, Carol Collins, Kenneth Thummel, Etienne Sochett, Michael A Levine

CONCLUSION: The milder form of IIH has a distinctive vitamin D metabolite profile and is primarily associated with heterozygous SLC34A1 and SLC34A3 variants.

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Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings

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