Article
Combined cardiological and neurological abnormalities due to filamin A gene mutation.
Clinical research in cardiology : official journal of the German Cardiac Society - 1 Jan 2011
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
Abstract excerpt
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....
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