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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Detalles Bibliográficos
Autores principales: Lim, Lee-Moay, Zhao, Xuan, Chao, Mei-Chyn, Chang, Jer-Ming, Chang, Wei-Chiao, Kao, Hung-Ying, Hwang, Daw-Yang, Chen, Hung-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
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

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