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MYH6

14q12

Etiology

- mutations in the alpha-myosin heavy chain gene MYH6 in atrial septal defects

References

- Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet. 2005 Apr;37(4):423-8. PMID: #15735645#