Associated Papers
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.
Bin-Abbas B et al.
Journal of the Endocrine Society, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
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
Vitamin D-dependent Rickets Type 1A Mimicking Pseudohypoparathyroidism in Presence of Active Tuberculosis.
Das S et al.
Jcem Case Reports, 2024
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
Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.
Yi C et al.
Experimental and Therapeutic Medicine, 2022
Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.
Al Homyani DK 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
Novel Compound Heterozygous Mutations in the CYP27B1 Gene Lead to Pseudovitamin D-Deficient Rickets.
Koek WN et al.
Calcified Tissue International, 2016
A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A.
Hu WW et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
Cytochromes p450: roles in diseases.
Pikuleva IA et al.
The Journal of Biological Chemistry, 2013
Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients.
Cui N et al.
Bone, 2012
Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.
Dhull RS et al.
Jornal Brasileiro De Nefrologia, 0
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