Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis.
作者信息
Ishiyama Hiroyuki, Ihara Masafumi
机构信息
Department of Neurology, National Cerebral and Cardiovascular Center, Osaka, Japan.
出版信息
Eur J Hum Genet. 2023 Jul;31(7):733-734. doi: 10.1038/s41431-023-01353-5. Epub 2023 Apr 5.
Abstract
摘要
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本文引用的文献
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Severe Hemophilia A and Moyamoya Syndrome in a 19-Year-Old Boy Caused by Xq28 Microdeletion.一名19岁男孩因Xq28微缺失导致的重度甲型血友病和烟雾病综合征
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Moyamoya disease: diagnosis and interventions.烟雾病：诊断与干预。
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Cutaneous manifestations in Moyamoya angiopathy: A review.烟雾病的皮肤表现：综述。
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Neurol Sci. 2021 Feb;42(2):655-663. doi: 10.1007/s10072-020-04574-4. Epub 2020 Jul 10.
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Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease.RNF213基因p.R4810K多态性与类烟雾病的显著关联。
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