Pathology

 germline mutations in MYH11 (myosin heavy chain 11) in association TAAD-patent ductus arteriosus (#16444274#)

References

 Zhu L, Vranckx R, Van Kien PK, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet. 2006 Jan 29; PMID: #16444274#

 CBFB/MYH11 fusion protein in acute myeloid leukemia by inv(16)(p13q22) or t(16;16)(p13;q22) in

• acute non lymphoblastic leukaemia (ANLL)
  • acute myeloid leukemia M4
    • acute myeloid leukemia M4eo

• myelodysplastic syndromes (MDS)

References

 Zhu L, Vranckx R, Van Kien PK, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet. 2006 Jan 29; PMID: #16444274#