Vitamin D Receptor Mutations in Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

CONTEXT: Hereditary vitamin D resistant rickets (HVDRR), also known as vitamin D-dependent rickets type II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D...

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Hlavní autoři: Malloy, Peter J., Tasic, Velibor, Taha, Doris, Tütüncüler, Filiz, Ying, Goh Siok, Yin, Loke Kah, Wang, Jining, Feldman, David
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3933290/
https://ncbi.nlm.nih.gov/pubmed/24246681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.10.014
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