Detection of hereditary 1,25-hydroxyvitamin D-resistant rickets caused by uniparental disomy of chromosome 12 using genome-wide single nucleotide polymorphism array

PLoS ONE

Volumn 10, Issue 7, 2015, Pages

  Tamura, Mayuko ^a   Isojima, Tsuyoshi ^a   Kawashima, Minae ^a   Yoshida, Hideki ^b   Yamamoto, Keiko ^c   Kitaoka, Taichi ^c   Namba, Noriyuki ^c   Oka, Akira ^a   Ozono, Keiichi ^c   Tokunaga, Katsushi ^a   Kitanaka, Sachiko ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALFACALCIDOL; CALCIUM; CALCIUM LACTATE; VITAMIN D RECEPTOR; 1,25-DIHYDROXYVITAMIN D; HYDROXYCOLECALCIFEROL; VITAMIN D;

ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 12; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG MEGADOSE; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE SEGREGATION; GENE SEQUENCE; HEREDITARY 1,25 HYDROXYVITAMIN D RESISTANT RICKETS; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PRESCHOOL CHILD; RICKETS; SHORT STATURE; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TREATMENT WITHDRAWAL; UNIPARENTAL DISOMY; VDR GENE; ALLELE; ANALOGS AND DERIVATIVES; BODY HEIGHT; DIETARY SUPPLEMENT; GENETICS; GROWTH DISORDER; HETEROZYGOTE; HOMOZYGOTE; HUMAN GENOME; METABOLISM; MUTATION; ORAL DRUG ADMINISTRATION; RICKETS, HYPOPHOSPHATEMIC;

ADMINISTRATION, ORAL; ALLELES; ALOPECIA; BODY HEIGHT; CALCIUM; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 12; DIETARY SUPPLEMENTS; FEMALE; GENOME, HUMAN; GROWTH DISORDERS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYDROXYCHOLECALCIFEROLS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RICKETS, HYPOPHOSPHATEMIC; UNIPARENTAL DISOMY; VITAMIN D;

EID: 84941341057     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0131157     Document Type: Article

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