Sinus of Valsalva Aneurysm: A Potential Case of Filamin A Mutation

Filamin A is a protein essential for cytoskeleton production, encoded by the X-lined dominantly inherited FLNA gene. A deficiency in filamin A can lead to cardiac valvular dysplasia and periventricular nodular heterotopia in the brain. Notably, periventricular heterotopia Type 1 has associations wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Win, Soe, Tucker, Eveline, Wallace, Katie, Gower, Hannah, Kandasamy, Karikalan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10597397/
https://www.ncbi.nlm.nih.gov/pubmed/37881376
http://dx.doi.org/10.7759/cureus.45858

Ejemplares similares

Ejemplares similares