Associated Papers
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
Kaygusuz SB et al.
Calcified Tissue International, 2021
A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene.
Kim YM et al.
Annals of Pediatric Endocrinology & Metabolism, 2019
Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients.
Cui N et al.
Bone, 2012
Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.
Kim CJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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