Associated Papers
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.
Bin-Abbas B et al.
Journal of the Endocrine Society, 2026
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
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
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
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.
Zou M et al.
Frontiers in Genetics, 2020
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
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A
Dursun F et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin.
Zalewski A et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
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 type 1: a rare, but treatable, cause of severe hypotonia in infancy.
Yan Y et al.
Journal of Child Neurology, 2011
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep.
Zhao X et al.
Plos One, 2011
A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1.
Alzahrani AS et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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