c.2069A≥G基因突变致X-连锁低磷抗D性佝偻病临床特征并文献复习

李恬恬, 张立琴

中国儿童保健杂志 ›› 2018, Vol. 26 ›› Issue (4) : 462-464.

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中国儿童保健杂志 ›› 2018, Vol. 26 ›› Issue (4) : 462-464. DOI: 10.11852/zgetbjzz2018-26-04-33
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c.2069A≥G基因突变致X-连锁低磷抗D性佝偻病临床特征并文献复习

  • 李恬恬, 张立琴
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李恬恬, 张立琴. c.2069A≥G基因突变致X-连锁低磷抗D性佝偻病临床特征并文献复习[J]. 中国儿童保健杂志. 2018, 26(4): 462-464 https://doi.org/10.11852/zgetbjzz2018-26-04-33
中图分类号: R179   

参考文献

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[6] Carpenter TO,Imel EA,Holm IA,et al.A clinician's guide to X-linked hypophosphatemia[J].J Bone Miner Res,2011,26(7):1381-1388.
[7] Cheon CK,Lee HS,Kim SY,et al.A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature[J].Ann Pediatr Endocrinol Metab,2014,19(1):36-41.
[8] Durmaz E,Zou M,Al-Rijjal RA,et al.Novel and de novo PHEX,mutations in patients with hypophosphatemic rickets[J].Bone,2013,52(1):286-291.
[9] Owen C,Chen F,Flenniken AM,et al.A novel Phex,mutation in a new mouse model of hypophosphatemic rickets?[J].J Cell Biochem,2012,113(7):2432-2441.
[10] 宋莹,麻宏伟.X-连锁低磷性佝偻病的诊治进展[J].国际儿科学杂志,2015,42(1):25-27.
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