论文部分内容阅读
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.“,”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.