直近一年間の累計
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ID 116530
著者
Muto, Kohei Tokushima University
寺澤, 由佳 Brain Attack Center Ota Memorial Hospital KAKEN研究者をさがす
島谷, 佳光 Tokushima Prefectural Central Hospital
Kakimoto, Takumi Tokushima University
Fukumoto, Tatsuya Tokushima University
資料タイプ
学術雑誌論文
抄録
COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neural tumors has been described. Here, we report a Japanese family with a novel COL4A1 variant, including a patient with recurrent epistaxis and glioblastoma.
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
8
開始ページ
18
発行日
2021-05-14
権利情報
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
医学系
病院