Spinal Neurofibromatosis (SNF): A Variant Phenotype of Neurofibromatosis Type 1 (NF1)

被引：0
作者：
Rogawski, David S. [1 ]
Tong, Elizabeth [2 ]
Campen, Cynthia [1 ]
机构：
[1] Stanford Med, Dept Neurol & Neurol Sci, Palo Alto, CA 94304 USA
[2] Stanford Med, Dept Radiol, Palo Alto, CA USA
来源：
JOURNAL OF PEDIATRICS | 2023年 / 261卷
关键词：
MUTATION;
D O I：
10.1016/j.jpeds.2023.113571
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
[No abstract available]
引用
收藏
页数：3
相关论文
共 50 条
  • [21] Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS)
    Baralle, D
    Mattocks, C
    Kalidas, K
    Elmslie, F
    Whittaker, J
    Lees, M
    Ragge, N
    Patton, MA
    Winter, RM
    ffrench-Constant, C
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 119A (01): : 1 - 8
  • [22] Epidemiology of neurofibromatosis type 1
    Friedman, JM
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 89 (01): : 1 - 6
  • [23] Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation
    Zhang, Wuming
    Hu, Xianqin
    Chen, Zhikang
    Lai, Chen
    FRONTIERS IN ONCOLOGY, 2022, 12
  • [24] A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1
    Cai, S. P.
    Fan, N.
    Chen, J.
    Xia, Z. L.
    Wang, Y.
    Zhou, X. M.
    Yin, Y.
    Wen, T. L.
    Xia, Q. J.
    Liu, X. Y.
    Wang, H. Y.
    GENETICS AND MOLECULAR RESEARCH, 2014, 13 (03): : 5395 - 5404
  • [25] Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation
    Kocakap, Sayin D. B.
    Gunduz, O.
    Ozer, L.
    Durak, M.
    BALKAN JOURNAL OF MEDICAL GENETICS, 2021, 24 (02) : 99 - 102
  • [26] Neurological malignancies in neurofibromatosis type 1
    Eoli, Marica
    Saletti, Veronica
    Finocchiaro, Gaetano
    CURRENT OPINION IN ONCOLOGY, 2019, 31 (06) : 554 - 561
  • [27] SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis
    Micaglio, Emanuele
    Monasky, Michelle M.
    Ciconte, Giuseppe
    Vicedomini, Gabriele
    Conti, Manuel
    Mecarocci, Valerio
    Giannelli, Luigi
    Giordano, Federica
    Pollina, Alberto
    Saviano, Massimo
    Crisa, Simonetta
    Borrelli, Valeria
    Ghiroldi, Andrea
    D'Imperio, Sara
    Di Resta, Chiara
    Benedetti, Sara
    Ferrari, Maurizio
    Santinelli, Vincenzo
    Anastasia, Luigi
    Pappone, Carlo
    FRONTIERS IN GENETICS, 2019, 10
  • [28] Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the Neurofibromatosis type 1 (NF1) tumour-suppressor gene
    Rodenhiser, DI
    Andrews, JD
    Mancini, DN
    Jung, JH
    Singh, SM
    MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 1997, 373 (02) : 185 - 195
  • [29] Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NFI):: Diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene
    Friedrich, RE
    Kluwe, L
    Fünsterer, C
    Mautner, VF
    ANTICANCER RESEARCH, 2005, 25 (3A) : 1699 - 1702
  • [30] Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I
    Xu, Min
    Xiong, Hui
    Han, Yanfang
    Li, Chijun
    Mai, Shaozhen
    Huang, Zhongzhou
    Ai, Xuechen
    Guo, Zhixuan
    Zeng, Fanqin
    Guo, Qing
    FRONTIERS IN GENETICS, 2018, 9
12345