Most of the symptoms of this disease are caused by Transforming growth factor beta, which is the reason that it shares many phenotypes with Loeys-Deitz Syndrome. It is caused by a mutation in the FBN1 gene, whose associated fibrillin-1 protein is a component of the extracellular matrix responsible for elastic fiber maintenance. Valve prolapse and arrhythmia are the most serious symptoms, along with aortic aneurysm and lung collapse. For 10 points, name this autosomal dominant disease named for a
Most of the symptoms of this disease are caused by Transforming growth factor beta, which is the reason that it shares many phenotypes with Loeys-Deitz Syndrome. It is caused by a mutation in the FBN1 gene, whose associated fibrillin-1 protein is a component of the extracellular matrix responsible for elastic fiber maintenance. Valve prolapse and arrhythmia are the most serious symptoms, along with aortic aneurysm and lung collapse. For 10 points, name this autosomal dominant disease named for a French doctor with symptoms including elongated fingers and tall stature, which may have afflicted Abe Lincoln.
Most of the symptoms of this disease are caused by Transforming growth factor beta, which is the reason that it shares many phenotypes with Loeys-Deitz Syndrome.
{Marfan} syndrome