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A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma
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 neur...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121905/ https://www.ncbi.nlm.nih.gov/pubmed/33990551 http://dx.doi.org/10.1038/s41439-021-00150-0 |
| _version_ | 1783692480707821568 |
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| author | Muto, Kohei Miyamoto, Ryosuke Terasawa, Yuka Shimatani, Yoshimitsu Hara, Keijiro Kakimoto, Takumi Fukumoto, Tatsuya Osaki, Yusuke Fujita, Koji Harada, Masafumi Uehara, Hisanori Takagi, Yasushi Izumi, Yuishin |
| author_facet | Muto, Kohei Miyamoto, Ryosuke Terasawa, Yuka Shimatani, Yoshimitsu Hara, Keijiro Kakimoto, Takumi Fukumoto, Tatsuya Osaki, Yusuke Fujita, Koji Harada, Masafumi Uehara, Hisanori Takagi, Yasushi Izumi, Yuishin |
| author_sort | Muto, Kohei |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-8121905 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-81219052021-05-18 A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma Muto, Kohei Miyamoto, Ryosuke Terasawa, Yuka Shimatani, Yoshimitsu Hara, Keijiro Kakimoto, Takumi Fukumoto, Tatsuya Osaki, Yusuke Fujita, Koji Harada, Masafumi Uehara, Hisanori Takagi, Yasushi Izumi, Yuishin Hum Genome Var Data Report 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. Nature Publishing Group UK 2021-05-14 /pmc/articles/PMC8121905/ /pubmed/33990551 http://dx.doi.org/10.1038/s41439-021-00150-0 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access 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/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Data Report Muto, Kohei Miyamoto, Ryosuke Terasawa, Yuka Shimatani, Yoshimitsu Hara, Keijiro Kakimoto, Takumi Fukumoto, Tatsuya Osaki, Yusuke Fujita, Koji Harada, Masafumi Uehara, Hisanori Takagi, Yasushi Izumi, Yuishin A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma |
| title | A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma |
| title_full | A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma |
| title_fullStr | A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma |
| title_full_unstemmed | A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma |
| title_short | A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma |
| title_sort | novel col4a1 variant associated with recurrent epistaxis and glioblastoma |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121905/ https://www.ncbi.nlm.nih.gov/pubmed/33990551 http://dx.doi.org/10.1038/s41439-021-00150-0 |
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