1. Brassington AME, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, et al. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet. 2003 Jul;73(1):74–85.
2. Maury P, Gandjbakhch E, Baruteau AE, Bessière F, Kyndt F, Bouvagnet P, et al. Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene. J Am Coll Cardiol. 2016 Nov 29;68(21):2389–90.
3. Ellesøe SG, Johansen MM, Bjerre JV, Hjortdal VE, Brunak S, Larsen LA. Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature. Congenit Heart Dis. 2016 May;11(3):283–90.
4. Monserrat L, Hermida-Prieto M, Fernandez X, Rodríguez I, Dumont C, Cazón L, et al. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J. 2007 Aug;28(16):1953–61.
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