Doua Khalid Al Homyani Shahad Khalid Alhemaiani
10.3389/fendo.2022.862022
Front Endocrinol (Lausanne)
2022 May 18;13:862022.
1,25-dihydroxyvitamin d 25 hydroxyvitamin d cyp27b1 gene vddr1a dependent rickets
CC BY
https://pubmed.ncbi.nlm.nih.gov/35663328/
25-Hydroxyvitamin D3 1-alpha-Hydroxylase / genetics Familial Hypophosphatemic Rickets / pathology
25-Hydroxyvitamin D3 1-alpha-Hydroxylase / genetics Familial Hypophosphatemic Rickets / pathology Case Reports Child Child, Preschool Female Humans Infant, Newborn Male Mutation Vitamin D / therapeutic use Vitamins Vitamins Vitamin D 25-Hydroxyvitamin D3 1-alpha-Hydroxylase CYP27B1 protein, human Vitamin D Hydroxylation-Deficient Rickets, Type 1A
PMC9157501
35663328
Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report
2022