Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese

Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. We described a female toddler with initial presentation of leg tenderness and clinical features of HV...

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Bibliografiska uppgifter
I publikationen:PLoS One
Huvudupphovsmän: Lim, Lee-Moay, Zhao, Xuan, Chao, Mei-Chyn, Chang, Jer-Ming, Chang, Wei-Chiao, Kao, Hung-Ying, Hwang, Daw-Yang, Chen, Hung-Chun
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2015
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4589239/
https://ncbi.nlm.nih.gov/pubmed/26422470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0138152
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