Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Abstract Background FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or connective tissue disorders (CTD) have regularly been associated. We...
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Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
BMC
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/d0fc9cf40c2a4de0a8134ace8ab5266e |
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