Genetic defects in SMAD3 cause Loeys-Dietz syndrome type 3 (LDS3), an autosomal dominant connective tissue disorder most prominently characterized by abnormal enlargement and even rupture of the main blood vessels in the chest, abdomen or brain. Individuals with a genetic defect in the SMAD3 gene have a s predisposition for inflammatory breakdown of joint cartilage and underlying bone.
SMAD3