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...

Descripción completa

Detalles Bibliográficos
Autores principales: Isojima, Tsuyoshi, Ishizawa, Michiyasu, Yoshimura, Kazuko, Tamura, Mayuko, Hirose, Shinichi, Makishima, Makoto, Kitanaka, Sachiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5365159/
https://www.ncbi.nlm.nih.gov/pubmed/28377956
http://dx.doi.org/10.1016/j.bonr.2015.05.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5365159/
https://www.ncbi.nlm.nih.gov/pubmed/28377956
http://dx.doi.org/10.1016/j.bonr.2015.05.001

Ejemplares similares