G2Cdb::Human Disease Report


Disease id D00000239
Name Ascending thoracic aortic aneurysms leading to type A dissections
Nervous system disease No
Genes
G00002011 (MYH11) myosin, heavy chain 11, s
Literature
(1 items)
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.
Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X
Nat Genet. 2006;38;343-9. PMID: 16444274 DOI: 10.1038/ng1721