Associated Papers
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.
Bin-Abbas B et al.
Journal of the Endocrine Society, 2026
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
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.
Park HS et al.
Frontiers in Endocrinology, 2022
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
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
Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment.
Michałus I et al.
Clinical Genetics, 2018
Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.
Cho JH et al.
Annals of Pediatric Endocrinology & Metabolism, 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
No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.
Kitanaka S et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Select a paper to view details