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Charitakis, Konstantinos; Lee, Joseph; Wilkes, David C; Kim, Luke; Hatcher, Cathy J
Journal of the American College of Cardiology, 03/2012, Letnik: 59, Številka: 13Journal Article
Previously, we identified an R674Q missense mutation in the MYH8 gene encoding the myosin heavy chain perinatal isoform (MyHCpn) in individuals with a rare CNC variant who exhibit typical CNC findings along with the trismus pseudocamptodactyly limb contracture syndrome.
