Carvajal-Naxos sendromu
DCWHKTA sendromu
Kalıtsal - AD
Eritemli gingiva
Dişeti çekilmeleri
Değişik dişlerin agenezi (hipodonti/oligodonti)
Mine displazisi
Diş çürükleri
Restriktif kardiyomyopati
Aritmilere bağlı ansızın ölüm
Kalp ileti kusurları
Deride hiperkeratoz-çatlaklar
Kaşıntı
Palmoplantar hiperkeratoz
Yünsü kıl yapısı
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Norgett EE, Lucke TW, Bowers B, et al. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and wooly hair associated with a novel insertion mutation in desmoplakin. (Letter) Journal of Investigative Dermatology, 126: 1651-1654, 2006
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Chalabreysse L, Senni F, Bruyere P, et al. A new hypo/oligodontia syndrome: Carvajal Naxos syndrome secondary to desmoplakin-dominant mutations. Journal of Dental Research, 90: 58-64, 2011
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Boule S, Fressart V, Laux D, et al. Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. International Journal of Cardiology, 161: 50-52, 2012
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Boyden LM, Kam CY, Hernandez-Martin A, et al. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Human Molecular Genetics, 25: 348-357, 2016