Mayuko Tamura Tsuyoshi Isojima Minae Kawashima Hideki Yoshida Keiko Yamamoto Taichi Kitaoka Noriyuki Namba Akira Oka Keiichi Ozono Katsushi Tokunaga Sachiko Kitanaka
10.1371/journal.pone.0131157
PLoS One
2015 Jul 8;10(7):e0131157.
CC BY
https://pubmed.ncbi.nlm.nih.gov/26153892/
Chromosomes, Human, Pair 12 Polymorphism, Single Nucleotide Rickets, Hypophosphatemic / diagnosis Rickets, Hypophosphatemic / genetics Uniparental Disomy / genetics Vitamin D / analogs & derivatives
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
PMC4496068
26153892
Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array
2015