Muto, Kohei Tokushima University
島谷, 佳光 Tokushima Prefectural Central Hospital
Kakimoto, Takumi Tokushima University
Fukumoto, Tatsuya Tokushima University
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.
Human Genome Variation
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