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GENATLAS PHENOTYPE
last update : 17-03-2012
Symbol TAAD1
Location 16p13
Name thoracic aortic aneurysm with aortic dissection 1
Other name(s) aortic aneurysm dissection and patent ductus arteriosus
Corresponding gene MYH11
Other symbol(s) FTAA3, FAA4, AAT4, TAAD
Main clinical features associated to aortic dissection, and arterial shunt, true arteriomyopathy
Genetic determination autosomal dominant
Function/system disorder cardiovascular
Type disease
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
unknown     in coiled-coil C-terminal domain
Remark(s)