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] NEUROFIBROMATOSIS-1 PRESENTING WITH GIGANTISM AND PRECOCIOUS PUBERTY
    Makri, Angeliki
    Lodish, Maya B.
    Rayada, Margarita
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 317 - 318
  • [42] THE NATURAL HISTORY OF NEUROFIBROMATOSIS-1, THE MONTEFIORE EXPERIENCE
    Lin, Tiffany
    Dalvi, Nagma
    NEURO-ONCOLOGY, 2021, 23 : 86 - 86
  • [43] Drosophila melanogaster neurofibromatosis-1: ROS, not Ras?
    James A Walker
    André Bernards
    Nature Genetics, 2007, 39 : 443 - 445
  • [44] DETECTION OF GERMLINE MUTATION AT THE NEUROFIBROMATOSIS-1 LOCUS
    SAWADA, S
    NIIMURA, M
    VISKOCHIL, D
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 104 (04) : 625 - 625
  • [45] A Case for Gastrointestinal Specific Polyps in Neurofibromatosis-1
    Rozenberg, Jonathan
    Mir, Adil
    Monkemuller, Klaus
    El Kurdi, Bara
    Grider, Douglas
    AMERICAN JOURNAL OF GASTROENTEROLOGY, 2024, 119 (10S): : S2052 - S2052
  • [46] PHEOCHROMOCYTOMA CRISIS IN A PATIENT WITH NEUROFIBROMATOSIS-1 AND ASTROCYTOMA
    Shah, Anvay
    Shah, Vishrut
    Smith, Sydney
    Liu, Cynthia
    Bolduc, Aaron
    Isales, Carlos
    CHEST, 2024, 166 (04) : 3008A - 3009A
  • [47] Drosophila melanogaster neurofibromatosis-1:: ROS, not Ras?
    Walker, James A.
    Bernards, Andre
    NATURE GENETICS, 2007, 39 (04) : 443 - 445
  • [48] BILATERAL ACOUSTIC NEUROFIBROMATOSIS (NEUROFIBROMATOSIS-2) - A DISORDER DISTINCT FROM VONRECKLINGHAUSENS NEUROFIBROMATOSIS (NEUROFIBROMATOSIS-1)
    FLEXON, PB
    NADOL, JB
    SCHUKNECHT, HF
    MONTGOMERY, WW
    MARTUZA, RL
    ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 1991, 100 (10): : 830 - 834
  • [49] NEUROFIBROMATOSIS-1 AND OSSEOUS FIBROUS DYSPLASIA IN A FAMILY
    SCHOTLAND, HM
    ELDRIDGE, R
    SOMMER, SS
    MALAWAR, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (05): : 815 - 822
  • [50] Primary Pulmonary Rhabdomyosarcoma in an Adult With Neurofibromatosis-1
    Choi, Jae-Sung
    Choi, Jong Sun
    Kim, Eung-Joong
    ANNALS OF THORACIC SURGERY, 2009, 88 (04): : 1356 - 1358