NEUROFIBROMATOSIS - NEW CLINICAL AND GENETIC-ASPECTS

被引:0
|
作者
FROSTERISKENIUS, UG [1 ]
WOLFF, HH [1 ]
机构
[1] MED UNIV LUBECK,DERMATOL & VENEROL KLIN,W-2400 LUBECK 1,GERMANY
来源
HAUTARZT | 1991年 / 42卷 / 05期
关键词
NEUROFIBROMATOSIS; RECKLINGHAUSEN DISEASE; CLASSIFICATION; GENETICS;
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Neurofibromatosis is not a single entity. Seven types of the disorder are now known, which can be differentiated by clinical and genetic features. The wide variety of clinical manifestations makes close interdisciplinary cooperation necessary, in which the dermatologist frequently has a key role. The most frequent forms are peripheral neurofibromatosis (NF1) and central neurofibromatosis (NF2), for which separate gene localizations have been found on chromosomes 17 and 22, respectively, by molecular genetics techniques. The meanwhile possible prenatal diagnosis raises ethical questions.
引用
收藏
页码:279 / 283
页数:5
相关论文
共 50 条
  • [31] Clinical and genetic aspects of idiopathic epilepsies in childhood
    Callenbach, PMC
    van den Maagdenbergb, AMJM
    Frants, RR
    Brouwer, OF
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2005, 9 (02) : 91 - 103
  • [32] Angelman syndrome: a review of clinical and genetic aspects
    Laan, LAEM
    van Haeringen, A
    Brouwer, OF
    CLINICAL NEUROLOGY AND NEUROSURGERY, 1999, 101 (03) : 161 - 170
  • [33] Clinical and Molecular Genetic Aspects of Hypertrophic Cardiomyopathy
    Marian, Ali J.
    CURRENT CARDIOLOGY REVIEWS, 2005, 1 (01) : 53 - 63
  • [34] Clinical and genetic aspects of hypertrophic and dilated cardiomyopathy
    Meder, B.
    Katus, H. A.
    INTERNIST, 2012, 53 (04): : 408 - +
  • [35] Primordial dwarfism: overview of clinical and genetic aspects
    Preeti Khetarpal
    Satrupa Das
    Inusha Panigrahi
    Anjana Munshi
    Molecular Genetics and Genomics, 2016, 291 : 1 - 15
  • [36] Neurofibromatosis: New Clinical Challenges in the Era of COVID-19
    Ardizzone, Alessio
    Capra, Anna Paola
    Campolo, Michela
    Filippone, Alessia
    Esposito, Emanuela
    Briuglia, Silvana
    BIOMEDICINES, 2022, 10 (05)
  • [37] Progressive supranuclear palsy: clinical and genetic aspects
    Pastor, P
    Tolosa, E
    CURRENT OPINION IN NEUROLOGY, 2002, 15 (04) : 429 - 437
  • [38] Clinical, genetic aspects and molecular pathogenesis of osteopetrosis
    Nadyrshina, D. D.
    Khusainova, R., I
    VAVILOVSKII ZHURNAL GENETIKI I SELEKTSII, 2023, 27 (04): : 383 - 392
  • [39] NEURO-OTOLOGICAL ASPECTS OF NEUROFIBROMATOSIS
    PODVINEC, M
    MERAN, A
    ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY AND ITS RELATED SPECIALTIES, 1979, 41 (06): : 347 - 355
  • [40] Pompe disease in Austria: clinical, genetic and epidemiological aspects
    W. N. Löscher
    M. Huemer
    T. M. Stulnig
    P. Simschitz
    S. Iglseder
    C. Eggers
    H. Moser
    D. Möslinger
    M. Freilinger
    F. Lagler
    S. Grinzinger
    M. Reichhardt
    R. E. Bittner
    W. M. Schmidt
    U. Lex
    M. Brunner-Krainz
    S. Quasthoff
    J. V. Wanschitz
    Journal of Neurology, 2018, 265 : 159 - 164