Associated Papers
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers.
Güven A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Infantile Nephrocalcinosis Resulting From a Pathogenic CYP24A1 Mutation.
Murphy JD et al.
Kidney International Reports, 2019
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F et al.
Kidney Medicine, 0
34746741 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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