"It is caused by mutations in the genes encoding transforming growth factor-beta receptor 1 (TGFBR1) or 2 (TGFBR2). Although Loeys-Dietz syndrome is inherited in an autosomal dominant pattern, de novo mutations account for approximately 75% of cases."
Expected headings
"Craniofacial"
"Cardiovascular"
"Musculoskeletal"
"Other"
"Subtypes"
"TGFBR1 mutation; chromosome 9q22"
"TGFBR2 mutation; chromosome 3p22"
"SMAD3 mutation; chromosome 15q"
"TGFB2 mutation; chromosome 1q41"