Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is caused by mutations in the VDR gene, and its inheritance is autosomal recessive. In this report, we aimed to confirm whether HVDRR is occasionally inherited as a dominant trait. An 18-month-old Japanese boy was evaluated for short statu...

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Détails bibliographiques
Publié dans:Bone Rep
Auteurs principaux: Isojima, Tsuyoshi, Ishizawa, Michiyasu, Yoshimura, Kazuko, Tamura, Mayuko, Hirose, Shinichi, Makishima, Makoto, Kitanaka, Sachiko
Format: Artigo
Langue:Inglês
Publié: Elsevier 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5365159/
https://ncbi.nlm.nih.gov/pubmed/28377956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bonr.2015.05.001
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