神经皮肤综合征：神经纤维瘤病1型、神经纤维瘤病2型和结节性硬化症。
Neurocutaneous syndromes: neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis.
作者信息
Korf B R
机构信息
Division of Genetics, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
出版信息
Curr Opin Neurol. 1997 Apr;10(2):131-6.
Neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis are a set of dominantly transmitted disorders that have in common the tendency towards formation of tumors of the nervous system and other tissues. The genes for neurofibromatosis 1, neurofibromatosis 2, and one of two forms of tuberous sclerosis have been identified and appear to act as tumor suppressor genes. Information is accumulating about pathogenesis that may eventually improve our ability to diagnose and treat these disorders.
神经纤维瘤病1型、神经纤维瘤病2型和结节性硬化症是一组显性遗传疾病，它们的共同特点是易于在神经系统和其他组织中形成肿瘤。神经纤维瘤病1型、神经纤维瘤病2型以及结节性硬化症两种形式之一的致病基因已被确定，并且似乎起着肿瘤抑制基因的作用。关于发病机制的信息正在不断积累，这最终可能会提高我们诊断和治疗这些疾病的能力。
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