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Combined cardiological and neurological abnormalities due to filamin A gene mutation
BACKGROUND: Cardiac defects can be the presenting symptom in patients with mutations in the X-linked gene FLNA. Dysfunction of this gene is associated with cardiac abnormalities, especially in the left ventricular outflow tract, but can also cause a congenital malformation of the cerebral cortex. We...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022162/ https://www.ncbi.nlm.nih.gov/pubmed/20730588 http://dx.doi.org/10.1007/s00392-010-0206-y |