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ba0005p481 | Paediatric bone disease | ECTS2016

Mutation update and short-term outcome after treatment with active vitamin D₃ in Chinese patients with pseudo-vitamin D-deficiency rickets

Chi Yue , Sun Jing , Pang Li , Jiajue Ruizhi , Jiang Yan , Wang Ou , Li Mei , Xing Xiaoping , Hu Yingying , Zhou Xueying , Meng Xunwu , Xia Weibo

Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, which is encoded by the CYP27B1 gene. To our best knowledge, 48 mutations of the CYP27B1 gene have been identified so far. In the present study, we investigated CYP27B1 mutations in seven individuals from six separate families and identified nine different mutations: two novel missense mutations (G194R, R259L), three novel a...

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Bone Abstracts

Mutation update and short-term outcome after treatment with active vitamin D₃ in Chinese patients with pseudo-vitamin D-deficiency rickets

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Bone Abstracts

Mutation update and short-term outcome after treatment with active vitamin D3 in Chinese patients with pseudo-vitamin D-deficiency rickets

BiosciAbstracts

Mutation update and short-term outcome after treatment with active vitamin D₃ in Chinese patients with pseudo-vitamin D-deficiency rickets