Heterozygous CYP27B1 c.262delG pathogenic variant and its impact on vitamin D metabolites and phosphocalcic profile in humans
Heterozygosity for <i>CYP27B1</i> c.262delG leads to changes on the vitamin D metabolites and the phosphocalcic profile. How these changes impact the risk of other vitamin D deficiency-associated conditions remain unknown.
Authors
- Lysanne Girard
- Véronique Desgagné
- Caroline Albert (ORCID: https://orcid.org/0000-0003-3819-6048)
- Patrice Perron (ORCID: https://orcid.org/0000-0003-4413-6199)
- Mathieu Desmeules
- Renée Guérin
- L. Françoise Bouchard
- Rosalie Plourde
- Carol-Ann Fortin
Institutions
- Université de Sherbrooke (CA)
- Centre Hospitalier Universitaire de Sherbrooke (CA)
- Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean (CA)
- Centre Hospitalier de l’Université de Montréal (CA)
- Université Laval (CA)
Publication Details
- Journal
- Frontiers in Physiology
- Published
- 2026-01-07
- DOI
- https://doi.org/10.3389/fphys.2025.1716877
- Primary Topic
- Vitamin D Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Faculty of Medicine and Health, University of Sydney