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...

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Detalles Bibliográficos
Autores principales: de Wit, Marie Claire Y., de Coo, Irenaeus F. M., Lequin, Maarten H., Halley, Dicky J. J., Roos-Hesselink, Jolien W., Mancini, Grazia M. S.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Paper
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

Internet

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

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