X-连锁低血磷性抗维生素D佝偻病基因突变研究进展

李恬恬; 张立琴

doi:10.11852/zgetbjzz2017-25-12-13

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中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (12) : 1233-1235. DOI: 10.11852/zgetbjzz2017-25-12-13

综述与讲座

X-连锁低血磷性抗维生素D佝偻病基因突变研究进展

李恬恬综述, 张立琴审校

作者信息 +

Research progress on gene mutation in X-linked dominate hypophosphatemia rickets

LI Tian-tian, ZHANG Li-qin

Author information +

文章历史 +

摘要

低血磷性抗维生素D佝偻病是一种以肾磷酸盐丢失、维生素D代谢及骨钙化异常为特征的可导致骨骼、牙齿等发育不良的遗传性佝偻病,主要以X-连锁显性遗传为主。本文就X-连锁低血磷性抗维生素D佝偻病PHEX基因突变进行综述,以期为佝偻病的基因研究提供依据。

Abstract

Hypophosphatemic rickets is a hereditary rickets characterized by loss of renal phosphate,abnormalities of vitamin D metabolism and bone calcification.It can lead to bones dysplasia and teeth dysplasia.X-linked interdependent inheritance is the main genetic type.This paper reviews the PHEX gene mutation of X-linked hypophosphatemic anti-vitamin D rickets in order to provide the basis for gene research of rickets.

导出引用

李恬恬, 张立琴. X-连锁低血磷性抗维生素D佝偻病基因突变研究进展[J]. 中国儿童保健杂志. 2017, 25(12): 1233-1235 https://doi.org/10.11852/zgetbjzz2017-25-12-13

LI Tian-tian, ZHANG Li-qin. Research progress on gene mutation in X-linked dominate hypophosphatemia rickets[J]. Chinese Journal of Child Health Care. 2017, 25(12): 1233-1235 https://doi.org/10.11852/zgetbjzz2017-25-12-13

中图分类号： R179

参考文献

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