Debilitating oste-ochondral manifestations in a patient with congenital insensitivity to pain with anhidrosis (CIPA) due to NTRK1 mutation

被引:0
|
作者
Li, X. [1 ]
Li, V. [2 ]
Sun, J. [1 ]
Jiang, Y. [1 ]
Chan, S. [2 ]
Kuong, E. [2 ]
机构
[1] Chinese Univ Hong Kong, Hong Kong, Peoples R China
[2] Univ Hong Kong, Hong Kong, Peoples R China
关键词
D O I
10.1016/j.nmd.2021.07.271
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
EP.247a
引用
收藏
页码:S124 / S124
页数:1
相关论文
共 50 条
  • [31] Pathological fracture of the mandible in a paediatric patient with congenital insensitivity to pain with anhidrosis (CIPA)
    Manor, Esther
    Joshua, Ben Zion
    Levy, Jacov
    Brennan, Peter A.
    Bodner, Lipa
    JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY, 2013, 41 (02) : E39 - E41
  • [32] Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA):: Mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor
    Indo, Y
    HUMAN MUTATION, 2001, 18 (06) : 462 - 471
  • [33] Congenital insensitivity to pain with anhidrosis: A report of two unrelated Chinese families with novel mutations in NTRK1 gene
    Li, Yujue
    Tang, Xueyang
    Yu, Xijie
    MEDICINA CLINICA, 2021, 157 (09): : 451 - 453
  • [34] Novel and Novel De Novo Mutations in NTRK1 Associated With Congenital Insensitivity to Pain With Anhidrosis: A Case Report
    Wang, Qingli
    Guo, Shanna
    Duan, Guangyou
    Xiang, Guifang
    Ying, Ying
    Zhang, Yuhao
    Zhang, Xianwei
    MEDICINE, 2015, 94 (19)
  • [35] A Novel Lymphocyte Signaling Defect: trk A Mutation in the Syndrome of Congenital Insensitivity to Pain and Anhidrosis (CIPA)
    I. Melamed
    J. Levy
    R. Parvari
    E. W. Gelfand
    Journal of Clinical Immunology, 2004, 24 : 441 - 448
  • [36] The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor
    Miranda, C
    Selleri, S
    Pierotti, MA
    Greco, A
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 119 (04) : 978 - 979
  • [37] Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients
    Lv, Fang
    Xu, Xiao-jie
    Song, Yu-wen
    Li, Lu-jiao
    Wang, Ou
    Jiang, Yan
    Xia, Wei-bo
    Xing, Xiao-ping
    Gao, Peng
    Li, Mei
    CLINICA CHIMICA ACTA, 2017, 468 : 39 - 45
  • [38] A novel lymphocyte singnaling defect:: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA)
    Melamed, I
    Levy, J
    Parvari, R
    Gelfand, EW
    JOURNAL OF CLINICAL IMMUNOLOGY, 2004, 24 (04) : 441 - 448
  • [39] Congenital insensitivity to pain with anhidrosis (CIPA):: Novel mutations of the TRK4 (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency
    Indo, Y
    Mardy, S
    Miura, Y
    Moosa, A
    Ismail, EAR
    Toscano, E
    Andria, G
    Pavone, V
    Brown, DL
    Brooks, A
    Endo, F
    Matsuda, I
    HUMAN MUTATION, 2001, 18 (04) : 308 - 318
  • [40] Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families (vol 106, pg 116, 2000)
    Miura, Y
    Mardy, S
    Awaya, Y
    Nihei, K
    Endo, F
    Matsuda, I
    Indo, Y
    HUMAN GENETICS, 2000, 106 (05) : 575 - 575