Carvajal syndrome
Definition:
References:
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[1]. E E Norgett, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. [Content Brief]
[2]. Josef Finsterer, et al. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe). Mol Genet Metab Rep. 2016 Jun 2;8:1-3. [Content Brief]
[3]. Nikos Protonotarios, et al. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004 Jul-Aug;13(4):185-94. [Content Brief]
[4]. Stéphane Boulé, et al. Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. Int J Cardiol. 2012 Nov 1;161(1):50-2. [Content Brief]
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