DISEASES

Disease-gene associations mined from literature

Human genes for Loeys-Dietz syndrome

Loeys-Dietz syndrome [DOID:0050466]

A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.

Synonyms:  Loeys-Dietz syndrome,  DOID:0050466,  LoeysDietz syndrome,  Loeys-Dietz disease,  Loeys-Dietz disorder ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6