Concepedia

Publication | Open Access

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

DOIFull Paper Access

19

Citations

45

References

2021

Year

Nina Lenherr‐Taube, Edwin J. Young, Michelle Furman, Yesmino Elia, Esther Assor, David Chitayat, Tami Uster, Susan M. Kirwin, Katherine Robbins, Kathleen MB Vinette,
The Journal of Clinical Endocrinology & Metabolism

Abstract

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

References

YearCitations

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