Abbreviations
VDDRIA: vitamin D-dependent rickets type 1
CYP27B1: Cytochrome P450 Family 27 Subfamily B Member 1
1,25 (OH)2 D: 1,25-dihydroxyvitamin D
PTH: parathyroid hormone
ALP: alkaline Phosphatase
VDDR: vitamin D-dependent rickets
Hb: hemoglobin
MCV: mean corpuscular volume
Ca: calcium
TSH: thyroid stimulating hormone
Cr: creatinine
FBS: fasting blood sugar
2-hpp: 2 hour Post Prandial
BUN: blood Urea Nitrogen
GH: growth hormone
IGF-1: insulin-like growth factor 1
RTA: renal tubular acidosis
Potential of hydrogen:pH
WES: whole exome sequencing
PCT: proximal convoluted tubule
TRPV6: transient Receptor Potential Cation Channel Subfamily V Member 6
FGF-23: fibroblast growth factor-23
PHEX: phosphate Regulating Endopeptidase Homolog X-Linked
DMP1: dentin matrix protein 1
PDDR: pseudo-VDDR
HGMD: human Gene Mutation Database
RSS: rickets Severity Score
MRI: magnetic resonance imaging
SDS: standard deviation score