Keyphrases
Genotype-phenotype Correlation
100%
Genetic Testing
100%
Hereditary Vitamin D-resistant Rickets (HVDRR)
100%
CYP27B1
100%
Hypophosphatemic Rickets
50%
Adverse Effects
25%
1,25-dihydroxyvitamin D3
25%
25-hydroxyvitamin D3
25%
Female child
25%
Working Diagnosis
25%
Clinical Significance
25%
Molecular Diagnostics
25%
Clinical Presentation
25%
Biologically Active
25%
Low Serum
25%
Serum Phosphate
25%
Biallelic
25%
Hydroxylation
25%
Calcium Metabolism
25%
Diagnostic Evaluation
25%
25-hydroxyvitamin D (25OHD)
25%
Phosphate Metabolism
25%
Biochemical Tests
25%
Exome Sequencing
25%
Pathogenic Variants
25%
Nutritional Rickets
25%
Immunology and Microbiology
Hydroxylation
100%
Phosphate Metabolism
100%
Genetic Screening
100%
Calcium Metabolism
100%
Whole Exome Sequencing
100%
Phosphate Blood Level
100%
Medicine and Dentistry
Vitamin D
100%
Genetic Screening
100%
Rickets
100%
Hypophosphatemic Rickets
50%
Phosphate Metabolism
25%
Calcium Metabolism
25%
25 Hydroxyvitamin D
25%
Exome Sequencing
25%
Hydroxylation
25%
25-Hydroxyvitamin D3 1-Alpha-Hydroxylase
25%
Adverse Effect
25%
Biochemistry, Genetics and Molecular Biology
Vitamin D
100%
Genetic Screening
100%
Rickets
100%
Enzyme
16%
Phosphate Metabolism
16%
Hydroxylation
16%
Calcium Metabolism
16%
Exome Sequencing
16%
Phosphate Blood Level
16%
Biochemical Testing
16%
25-Hydroxyvitamin D3 1-Alpha-Hydroxylase
16%