article_metadata: Mayuko Tamura Tsuyoshi Isojima Minae Kawashima Hideki Yoshida Keiko Yamamoto Taichi Kitaoka Noriyuki Namba Akira Oka Keiichi Ozono Katsushi Tokunaga Sachiko Kitanaka
article_metadata: 10.1371/journal.pone.0131157
article_metadata: PLoS One
article_metadata: 2015 Jul 8;10(7):e0131157.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/26153892/
article_metadata: Chromosomes, Human, Pair 12 Polymorphism, Single Nucleotide Rickets, Hypophosphatemic / diagnosis Rickets, Hypophosphatemic / genetics Uniparental Disomy / genetics Vitamin D / analogs & derivatives
article_metadata: Chromosomes, Human, Pair 12 Polymorphism, Single Nucleotide Rickets, Hypophosphatemic / diagnosis Rickets, Hypophosphatemic / genetics Uniparental Disomy / genetics Vitamin D / analogs & derivatives Case Reports Research Support, Non-U.S. Gov't Administration, Oral Alleles Alopecia / genetics Body Height Calcium / administration & dosage Child, Preschool Dietary Supplements Female Genome, Human Growth Disorders / genetics Heterozygote Homozygote Humans Hydroxycholecalciferols / administration & dosage Mutation Vitamin D / metabolism Hydroxycholecalciferols Vitamin D 1,25-dihydroxyvitamin D Calcium alfacalcidol
article_metadata: PMC4496068
article_metadata: 26153892
article_metadata: Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array
article_metadata: 2015