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