Cervical spinal cord compression caused by X-linked hypophosphatemic rickets with a novel PHEX mutation

被引:4
|
作者
Xie, Fei [1 ]
Cen, Zhi-dong [1 ]
Chen, Li-li [2 ]
Luo, Wei [1 ]
机构
[1] Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310003, Zhejiang, Peoples R China
[2] Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Stomatol, Hangzhou 310003, Zhejiang, Peoples R China
关键词
D O I
10.4103/0028-3886.141271
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
引用
收藏
页码:451 / U198
页数:3
相关论文
共 50 条
  • [1] Novel PHEX mutation associated with X-linked hypophosphatemic rickets
    Roetzer, K. M.
    Varga, F.
    Zwettler, E.
    Nawrot-Wawrzyniak, K.
    Haller, J.
    Forster, E.
    Klaushofer, K.
    BONE, 2006, 39 (05) : S21 - S21
  • [2] A novel mutation of PHEX causes a dominant X-linked hypophosphatemic rickets
    Masi, L.
    Sala, S. Carbonell
    Gozzini, A.
    Pela, I.
    Luzi, E.
    Franceschelli, F.
    Tanini, A.
    Brandi, M.
    BONE, 2007, 40 (06) : S62 - S62
  • [3] Novel PHEX Mutations and Mechanisms For X-linked Hypophosphatemic Rickets
    Alzoebie, Lama
    Weber, David
    Li, Dong
    Levine, Michael
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 1): : 26 - 27
  • [4] A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets
    Demirbas, Ozgecan
    Eren, Erdal
    Öngen, Yasemin Denkboy
    Sag, Sebnem Ozemri
    Gürkan, Hakan
    Temel, Sehime Gulsun
    GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, 2023, 21 (01): : 98 - 101
  • [5] A Novel Variant of PHEX in a Korean Family with X-linked Hypophosphatemic Rickets
    Kim, Sejin
    Kim, Sungsoo
    Kim, Namhee
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 454 - 454
  • [6] Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets
    Chandran, M.
    Chng, C. L.
    Zhao, Y.
    Bee, Y. M.
    Phua, L. Y.
    Clarke, B. L.
    NEPHRON PHYSIOLOGY, 2010, 116 (03): : P17 - P21
  • [7] PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
    Maria Forero-Delgadillo, Jessica
    Cleves, Daniela
    Ochoa, Vanessa
    Londono-Correa, Hernando
    Manuel Restrepo, Jaime
    Antonio Nastasi-Catanese, Jose
    Pachajoa, Harry
    APPLICATION OF CLINICAL GENETICS, 2020, 13 : 57 - 62
  • [8] Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene
    Makras, Polyzois
    Hamdy, Neveen A. T.
    Kant, Sarina G.
    Papapoulos, Socrates E.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (04): : 1386 - 1389
  • [9] Novel PHEX Nonsense Mutation in a Patient with X-Linked Hypophosphatemic Rickets and Review of Current Therapeutic Regimens
    Kienitz, T.
    Ventz, M.
    Kaminsky, E.
    Quinkler, M.
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2011, 119 (07) : 431 - 435
  • [10] PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets
    Yang, Lili
    Yang, Jianbin
    Huang, Xinwen
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2013, 26 (11-12): : 1179 - 1183