R. Alcalai, S. Metzger, S. Rosenheck, V. Meiner, and T. Chajek-shaul, A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair, Journal of the American College of Cardiology, vol.42, issue.2, pp.319-327, 2003.
DOI : 10.1016/S0735-1097(03)00628-4

L. Carvajal-huerta, Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy, Journal of the American Academy of Dermatology, vol.39, issue.3, pp.418-421, 1998.
DOI : 10.1016/S0190-9622(98)70317-2

L. Chalabreysse, F. Senni, P. Bruyere, A. B. Ollagnier, C. Bozio et al., A New Hypo/Oligodontia Syndrome: Carvajal/Naxos Syndrome Secondary to Desmoplakin-dominant Mutations, Journal of Dental Research, vol.90, issue.1, pp.58-64, 2011.
DOI : 10.1177/0022034510383984

M. Cox, P. Zwaag, . Van-der, C. Werf, . Van-der et al., Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening: Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up Study, Circulation, vol.123, issue.23, pp.2690-2700, 2011.
DOI : 10.1161/CIRCULATIONAHA.110.988287

J. Fausser, O. Schlepp, D. Aberdam, G. Meneguzzi, J. Ruch et al., Localization of antigens associated with adherens junctions, desmosomes, and hemidesmosomes during murine molar morphogenesis, Differentiation, vol.63, issue.1, pp.1-11, 1998.
DOI : 10.1046/j.1432-0436.1998.6310001.x

V. Fressart, G. Duthoit, E. Donal, V. Probst, J. Deharo et al., Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice, Europace, vol.12, issue.6, pp.861-868, 2010.
DOI : 10.1093/europace/euq104
URL : https://hal.archives-ouvertes.fr/inserm-00588266

T. Kilic, K. Babaoglu, F. Aygun, A. Vural, D. Ural et al., Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos???Carvajal syndrome, International Journal of Cardiology, vol.115, issue.3, pp.122-125, 2007.
DOI : 10.1016/j.ijcard.2006.08.097

A. Kolar, C. Milroy, P. Day, and S. Suvarna, Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome), Journal of Forensic and Legal Medicine, vol.15, issue.3, pp.185-188, 2008.
DOI : 10.1016/j.jflm.2007.09.002

M. Mahoney, S. Sadowski, D. Brennan, P. Pikander, P. Saukko et al., Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities, Journal of Investigative Dermatology, vol.130, issue.4, pp.968-978, 2010.
DOI : 10.1038/jid.2009.357

G. Mckoy, N. Protonotarios, A. Crosby, A. Tsatsopoulou, A. Anastasakis et al., Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease), The Lancet, vol.355, issue.9221, pp.2119-2124, 2000.
DOI : 10.1016/S0140-6736(00)02379-5

E. Norgett, T. Lucke, B. Bowers, C. Munro, I. Leigh et al., Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin, Journal of Investigative Dermatology, vol.126, issue.7, pp.1651-1654, 2006.
DOI : 10.1038/sj.jid.5700291

M. Prompona, R. Kozlik-feldmann, J. Mueller-hoecker, M. Reiser, and A. Huber, Magnetic Resonance Imaging Characteristics in Carvajal Syndrome (Variant of Naxos Disease), Circulation, vol.116, issue.20, pp.524-530, 2007.
DOI : 10.1161/CIRCULATIONAHA.107.704742

N. Protonotarios, A. Tsatsopoulou, and G. Scampardonis, Arrhythmogenic cardiomyopathy with ectodermal dysplasia, American Heart Journal, vol.116, issue.6, pp.1651-1652, 1988.
DOI : 10.1016/0002-8703(88)90776-4

S. Rao, I. Reddy, and K. Chandra, Familial occurrence of a rare combination of dilated cardiomyopathy with palmoplantar keratoderma and curly hair, Indian Heart J, vol.48, pp.161-162, 1996.

A. Tabib, R. Loire, L. Chalabreysse, D. Meyronnet, A. Miras et al., Circumstances of Death and Gross and Microscopic Observations in a Series of 200 Cases of Sudden Death Associated With Arrhythmogenic Right Ventricular Cardiomyopathy and/or Dysplasia, Circulation, vol.108, issue.24, pp.3000-3005, 2003.
DOI : 10.1161/01.CIR.0000108396.65446.21

A. Tanaka, J. Lai-cheong, M. Cafe, B. Gontijo, P. Salomao et al., cause similar skin phenotypes in two Brazilian families, British Journal of Dermatology, vol.22, issue.3, pp.692-697, 2009.
DOI : 10.1111/j.1365-2133.2008.08900.x