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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589239/ https://www.ncbi.nlm.nih.gov/pubmed/26422470 http://dx.doi.org/10.1371/journal.pone.0138152 |