Idiopathic infantile hypercalcaemia (IIH) resulting from a loss‐of‐function mutation in the CYP24A1 gene in a young high‐performance athlete: A case report with a literature review of adult presentations-Reference-Cited by-同舟云学术

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Idiopathic infantile hypercalcaemia (IIH) resulting from a loss‐of‐function mutation in the CYP24A1 gene in a young high‐performance athlete: A case report with a literature review of adult presentations

Published:2023-07-27 Issue:4 Volume:99 Page:355-360
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clinical Endocrinology

Author:

Rodríguez Alexander J.¹²^ORCID,Roberts David J.³

Affiliation:

1. Bone and Muscle Health Research Group, Department of Medicine, School of Clinical Sciences, Faculty of Medicine, Nursing and Health Sciences Monash University Clayton Victoria Australia

2. Department of Medicine (Endocrinology Division) Canberra Hospital Canberra Australia Capital Territory Australia

3. Department of Medicine Logan Hospital (Metro South Health Service) Brisbane Queensland Australia

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cen.14954

Reference21 articles.

1. Rare Causes of Hypercalcemia: 2021 Update

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

3. Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review

4. Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature

5. Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant

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