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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.

A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma