Associated Papers
Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.
Wang LK et al.
American Journal of Medical Genetics. Part A, 2024
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
Novel Compound Heterozygous Mutations in the CYP27B1 Gene Lead to Pseudovitamin D-Deficient Rickets.
Koek WN et al.
Calcified Tissue International, 2016
Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.
Demir K et al.
Plos One, 2015
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