Long, thin fingers typing away Marfan Life Long, thin fingers typing away
Symptoms: Tall, thin stature ~ Long fingers ~ Unusually long arms and legs ~ Curvature of the spine
Chest bone that curves inward or outward ~ Flat feet or high arches ~ Nearsightedness
Weakening of the connective tissue, most dangerously of the aorta
News

Tuesday, July 26, 2005

Scientists have identified the first genetic mutations that cause the aorta to widen, tear and rupture

Scientists have identified the first genetic mutations that cause the aorta to widen, tear and rupture: ... "The TGFBR2 pathway has long been studied in relation to cancer. Inactivation of the pathway has been shown to contribute to tumor formation and growth. Milewicz said the mutations connected to aortic aneurysm were not associated with cancer in the families studied. None of the families had symptoms of Marfan syndrome, a connective tissue disease that leaves its victims susceptible to aortic aneurysm and dissection.."



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