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

• Auteurs principaux: Masahiro Uemura (Auteur), Natsuki Tanaka (Auteur), Shoichiro Ando (Auteur), Takehiko Yanagihara (Auteur), Osamu Onodera (Auteur)
• Format: Livre
• Publié: MDPI AG, 2024-02-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...