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Article

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

1 Jul 2003

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 12875771
DOI: 10.1016/s0735-1097(03)00628-4

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Related research

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Click a neighbor to travelStep 1 · 12 closest

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hairPMID 12875771Read ↗

A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype.Semantic proximity Read ↗

Left-Dominant Arrhythmogenic Cardiomyopathy, Palmoplantar Keratoderma, and Curly Hair Associated With a Rare Autosomal Dominant Truncating Variant in Desmoplakin.Semantic proximity Read ↗

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in DesmoplakinSemantic proximity Read ↗

Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotypeSemantic proximity Read ↗

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.Semantic proximity Read ↗

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Semantic proximity Read ↗

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis BullosaSemantic proximity Read ↗

Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular CardiomyopathySemantic proximity Read ↗

Human hair abnormalities resulting from inherited desmosome gene mutations.Semantic proximity Read ↗

Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.Semantic proximity Read ↗

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.Semantic proximity Read ↗

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly HairSemantic proximity Read ↗

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