Associated Papers
A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.
Toral López J et al.
Diseases (basel, Switzerland), 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
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.
Özcabı B et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
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
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.
Durmaz E et al.
Clinical Endocrinology, 2012
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