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首页> 外文期刊>International Journal of Neuroscience >Neurofibromatosis type 1 association with moyamoya disease.
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Neurofibromatosis type 1 association with moyamoya disease.

机译:1型神经纤维瘤病与烟雾病相关。

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摘要

The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. The neurofibromatoses are classified as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of the neurofibromatoses. The gene responsible for NF1 is located on the chromosome region 17q11.2 and for familial moyamoya disease on chromosome 17q25. This article reports on a 20-year-old female with neurofibromatosis-1 who developed moyamoya syndrome. More extensive reports and further investigations of such families having this combination will certainly provide a better understanding of this link in the near future.
机译:神经纤维瘤是神经系统的遗传性疾病,主要影响神经(神经)细胞组织的发育和生长。神经纤维瘤病分为1型神经纤维瘤病(NF1)和2型神经纤维瘤病(NF2)。 NF1是神经纤维瘤更常见的类型。负责NF1的基因位于染色体区域17q11.2上,而家族性烟雾病则位于染色体17q25上。本文报道了一名20岁的女性,患有神经纤维瘤病1型,该女性患有烟雾病综合征。当然,对这种结合在一起的家庭进行更广泛的报道和进一步的调查肯定会在不久的将来更好地了解这种联系。

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