Associated Papers
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
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 mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients.
Cui N et al.
Bone, 2012
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 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 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.
Kim CJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
Wang X et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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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