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

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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Bibliographic Details
Main Authors: Lee-Moay Lim, Xuan Zhao, Mei-Chyn Chao, Jer-Ming Chang, Wei-Chiao Chang, Hung-Ying Kao, Daw-Yang Hwang, Hung-Chun Chen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4589239?pdf=render

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http://europepmc.org/articles/PMC4589239?pdf=render

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