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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
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 |