Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the fun...

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Detalles Bibliográficos
Autores principales: Pang, Qianqian, Qi, Xuan, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Dong, Jin, Xia, Weibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4923942/
https://www.ncbi.nlm.nih.gov/pubmed/27408766
http://dx.doi.org/10.1038/boneres.2016.18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4923942/
https://www.ncbi.nlm.nih.gov/pubmed/27408766
http://dx.doi.org/10.1038/boneres.2016.18

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