Total for the last 12 months
number of access : ?
number of downloads : ?
ID 116530
Author
Muto, Kohei Tokushima University
Terasawa, Yuka Brain Attack Center Ota Memorial Hospital KAKEN Search Researchers
Shimatani, Yoshimitsu Tokushima Prefectural Central Hospital
Kakimoto, Takumi Tokushima University
Fukumoto, Tatsuya Tokushima University
Content Type
Journal Article
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.
Journal Title
Human Genome Variation
ISSN
2054345X
Publisher
Springer Nature
Volume
8
Start Page
18
Published Date
2021-05-14
Rights
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/.
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Medical Sciences
University Hospital