Missense Variants in <i>COL4A1/2</i> Are Associated with Cerebral Aneurysms: A Case Report and Literature Review

• Main Authors: Masahiro Uemura (Author), Natsuki Tanaka (Author), Shoichiro Ando (Author), Takehiko Yanagihara (Author), Osamu Onodera (Author)
• Format: Book
• Published: MDPI AG, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Although cerebral aneurysm (CA) is a defining complication of <i>COL4A1/2</i>-related vasculopathy, the specific factors influencing its onset remain uncertain. This study aimed to identify and analyze these factors. Methods: We described a family presenting with a novel vari...