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Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
van Engelen K, Postma AV, van de Meerakker JB, Roos-Hesselink JW, Helderman-van den Enden AT, Vliegen HW, Rahman T, Baars MJ, Sels JW, Bauer U, Pickardt T, Sperling SR, Moorman AF, Keavney B, Goodship J, Klaassen S, Mulder BJ. van Engelen K, et al. Among authors: sperling sr. Neth Heart J. 2013 Mar;21(3):113-7. doi: 10.1007/s12471-011-0141-1. Neth Heart J. 2013. PMID: 21604106 Free PMC article.
Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S. Postma AV, et al. Among authors: sperling sr. Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2. Circ Cardiovasc Genet. 2011. PMID: 21127202
Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.
Grunert M, Dorn C, Schueler M, Dunkel I, Schlesinger J, Mebus S, Alexi-Meskishvili V, Perrot A, Wassilew K, Timmermann B, Hetzer R, Berger F, Sperling SR. Grunert M, et al. Among authors: sperling sr. Hum Mol Genet. 2014 Jun 15;23(12):3115-28. doi: 10.1093/hmg/ddu021. Epub 2014 Jan 23. Hum Mol Genet. 2014. PMID: 24459294
44 results