Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia-Reference-Cited by-同舟云学术

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Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia

Published:2012-11 Issue:1 Volume:161 Page:50-52
ISSN:0167-5273
Container-title:International Journal of Cardiology
language:en
Short-container-title:International Journal of Cardiology

Author:

Boulé Stéphane,Fressart Veronique,Laux Daniela,Mallet Audrey,Simon Francoise,de Groote Pascal,Bonnet Damien,Klug Didier,Charron Philippe

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference4 articles.

1. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria;Marcus;Eur Heart J,2010

2. Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia;Corrado;Heart,2011

3. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice;Fressart;Europace,2010

4. Naxos disease: cardiocutaneous syndrome due to cell adhesion defect;Protonotarios;Orphanet J Rare Dis,2006

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3. A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review;Clinical, Cosmetic and Investigational Dermatology;2023-09

4. The molecular architecture of the desmosomal outer dense plaque by integrative structural modeling;2023-06-14

5. Desmoplakin mutation underlying autosomal dominant arrhythmogenic cardiomyopathy, palmoplantar keratoderma, and curly hair;JAAD Case Reports;2023-06

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