Associated Papers
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET et al.
Circulation. Genomic and Precision Medicine, 2023
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.
Sato T et al.
Internal Medicine (tokyo, Japan), 2021
A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma.
Xue K et al.
Journal of Cosmetic Dermatology, 2019
Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy.
Favre B et al.
Circulation. Genomic and Precision Medicine, 2018
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).
Finsterer J et al.
Molecular Genetics and Metabolism Reports, 2016
How do keratinizing disorders and blistering disorders overlap?
Hamada T et al.
Experimental Dermatology, 2013
De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease.
Keller DI et al.
Swiss Medical Weekly, 2012
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2011
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
Al-Owain M et al.
Clinical Genetics, 2011
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.
Chalabreysse L et al.
Journal of Dental Research, 2011
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.
Hobbs RP et al.
The Journal of Investigative Dermatology, 2010
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
Mahoney MG et al.
The Journal of Investigative Dermatology, 2010
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