Difficulties in the diagnosis of neurofibromatosis-1 in children

被引:4
|
作者
Stoll, C [1 ]
机构
[1] Ctr Hosp Univ, Serv Genet Med, Strasbourg, France
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 112卷 / 04期
关键词
D O I
10.1002/ajmg.10655
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:422 / 426
页数:5
相关论文
共 50 条
  • [41] MOLECULAR ANALYSIS OF A PATIENT WITH NEUROFIBROMATOSIS-1 AND ACHONDROPLASIA
    PULST, SM
    PRIBYL, T
    BARKER, DF
    RICCARDI, VM
    REN, M
    YAARI, H
    KORENBERG, JR
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 40 (01): : 84 - 87
  • [42] Alterations in White Matter Microstructure in Neurofibromatosis-1
    Karlsgodt, Katherine H.
    Rosser, Tena
    Lutkenhoff, Evan S.
    Cannon, Tyrone D.
    Silva, Alcino
    Bearden, Carrie E.
    [J]. PLOS ONE, 2012, 7 (10):
  • [43] NEUROFIBROMATOSIS-1 PRESENTING WITH GIGANTISM AND PRECOCIOUS PUBERTY
    Makri, Angeliki
    Lodish, Maya B.
    Rayada, Margarita
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 317 - 318
  • [44] Drosophila melanogaster neurofibromatosis-1:: ROS, not Ras?
    Walker, James A.
    Bernards, Andre
    [J]. NATURE GENETICS, 2007, 39 (04) : 443 - 445
  • [45] NEUROFIBROMATOSIS-1 (RECKLINGHAUSEN DISEASE) AND NEUROFIBROMATOSIS-2 (BILATERAL ACOUSTIC NEUROFIBROMATOSIS) - AN UPDATE
    MULVIHILL, JJ
    PARRY, DM
    SHERMAN, JL
    PIKUS, A
    KAISERKUPFER, MI
    ELDRIDGE, R
    [J]. ANNALS OF INTERNAL MEDICINE, 1990, 113 (01) : 39 - 52
  • [46] NEUROFIBROMATOSIS-1 AND OSSEOUS FIBROUS DYSPLASIA IN A FAMILY
    SCHOTLAND, HM
    ELDRIDGE, R
    SOMMER, SS
    MALAWAR, M
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (05): : 815 - 822
  • [47] Primary Pulmonary Rhabdomyosarcoma in an Adult With Neurofibromatosis-1
    Choi, Jae-Sung
    Choi, Jong Sun
    Kim, Eung-Joong
    [J]. ANNALS OF THORACIC SURGERY, 2009, 88 (04): : 1356 - 1358
  • [48] BILATERAL ACOUSTIC NEUROFIBROMATOSIS (NEUROFIBROMATOSIS-2) - A DISORDER DISTINCT FROM VONRECKLINGHAUSENS NEUROFIBROMATOSIS (NEUROFIBROMATOSIS-1)
    FLEXON, PB
    NADOL, JB
    SCHUKNECHT, HF
    MONTGOMERY, WW
    MARTUZA, RL
    [J]. ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 1991, 100 (10): : 830 - 834
  • [49] Pathological fracture dislocation of the acetabulum in a patient with neurofibromatosis-1
    Saibaba, Balaji
    Sen, Ramesh Kumar
    Sharma, Manish
    Nahar, Uma
    [J]. INDIAN JOURNAL OF ORTHOPAEDICS, 2016, 50 (01) : 103 - 107
  • [50] Pathological fracture dislocation of the acetabulum in a patient with neurofibromatosis-1
    Balaji Saibaba
    Ramesh Kumar Sen
    Manish Sharma
    Uma Nahar
    [J]. Indian Journal of Orthopaedics, 2016, 50 : 103 - 107