A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma-Reference-Cited by-同舟云学术

A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

Published:2021-05-14 Issue:1 Volume:8 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Muto Kohei,Miyamoto Ryosuke^ORCID,Terasawa Yuka,Shimatani Yoshimitsu,Hara Keijiro,Kakimoto Takumi,Fukumoto Tatsuya,Osaki Yusuke,Fujita Koji,Harada Masafumi,Uehara Hisanori,Takagi Yasushi,Izumi Yuishin

Abstract

AbstractCOL4A1-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.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-021-00150-0.pdf

Reference19 articles.

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