A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

Abstract 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 coexistenc...

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Bibliographic Details
Main Authors: Kohei Muto, Ryosuke Miyamoto, Yuka Terasawa, Yoshimitsu Shimatani, Keijiro Hara, Takumi Kakimoto, Tatsuya Fukumoto, Yusuke Osaki, Koji Fujita, Masafumi Harada, Hisanori Uehara, Yasushi Takagi, Yuishin Izumi
Format: Article
Language:English
Published: Nature Publishing Group 2021-05-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00150-0