Carvajal syndrome with oligodontia, hypoacusis, recurrent infections, and noncompaction
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine
Reference15 articles.
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3. Evidence for genetic heterogeneity in Carvajal syndrome;Nehme;Cell Tissue Res.,2012
4. A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations;Chalabreysse;J. Dent. Res.,2011
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1. 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
2. Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review;Internal Medicine;2021-04-01
3. Palmoplantar keratoderma with curly hair;Pediatric Dermatology;2017-11
4. Cardiocutaneous Syndrome: The Tale between Heart and Skin;Global Journal of Rare Diseases;2017-01-27
5. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe);Molecular Genetics and Metabolism Reports;2016-09
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