Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance
Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Two siblings with vitamin-D-dependent rickets type II: No recurrence of rickets for 14 years after cessation of therapy
Successful Intermittent Intravenous Calcium Treatment via the Peripheral Route in a Patient with Hereditary Vitamin D-Resistant Rickets and Alopecia
MutationTaster2: mutation prediction for the deep-sequencing age
1,25-dihydroxyvitamin D resistance, rickets, and alopecia
Functional Domains of the Human Vitamin D<sub>3</sub>Receptor Regulate Osteocalcin Gene Expression
A method and server for predicting damaging missense mutations
Calcium therapy for calcitriol-resistant rickets
Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.
Genetic Disorders and Defects in Vitamin D Action
Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.
Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and Alopecia
Hypophosphatemia: the common denominator of all rickets
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
VarSome: the human genomic variant search engine
The vitamin D hormone and its nuclear receptor: molecular actions and disease states
Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports