A case report investigating hereditary hypophosphataemic rickets with hypercalcuria (HHRH), a suspected novel mutation and the FGF23 'red herring'

被引:0
|
作者
Hester, Holly [1 ]
Mushtaq, Talat [1 ]
机构
[1] Leeds Childrens Hosp, Leeds, W Yorkshire, England
来源
HORMONE RESEARCH IN PAEDIATRICS | 2022年 / 95卷 / SUPPL 2期
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P1-423
引用
收藏
页码:158 / 158
页数:1
相关论文
共 3 条
  • [1] Hyperaminoaciduria and resolving phosphaturia in a family with autosomal dominant hypophosphataemic rickets (ADHR) due to a mutation in the FGF23 gene
    Koehle, J. K.
    Kapelari, K.
    Kotzot, D.
    Strom, T. M.
    Zimmerhackl, L. B.
    Hoegler, W.
    [J]. BONE, 2009, 45 : S93 - S94
  • [2] A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia A case report
    Ye, Fanhao
    Jiang, Wenbing
    Lin, Wei
    Wang, Yi
    Chen, Hao
    Zou, He
    Huang, Shiwei
    Zhu, Ning
    Han, Sisi
    [J]. MEDICINE, 2020, 99 (31)
  • [3] A Sole Case of the FGF23 Gene Mutation c.202A>G (p.Thr68Ala) Associated with Multiple Severe Vascular Aneurysms and a Hyperphosphatemic Variant of Tumoral Calcinosis-A Case Report
    Ivanova, Nevena Georgieva
    [J]. LIFE-BASEL, 2024, 14 (05):