Associated Papers
Genetic Variants Influencing Individual Vitamin D Status.
Karrow NA et al.
Nutrients, 2025
Novel Mutation in CYP2R1 Causing Vitamin D-Dependent Rickets Type 1b.
Menon JC et al.
Jcem Case Reports, 2024
New Variants of the Cytochrome P450 2R1 (CYP2R1) Gene in Individuals with Severe Vitamin D-Activating Enzyme 25(OH)D Deficiency.
Fronczek M et al.
Biomolecules, 2021
25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations.
Bakhamis S et al.
Endocrine Connections, 2021
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b.
Ozden A et al.
Endocrine, 2021
A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report.
Teshima T et al.
Bmc Veterinary Research, 2019
CYP2R1 mutations causing vitamin D-deficiency rickets.
Thacher TD et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Molin A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.
Thacher TD et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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