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Article

A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Dec 2016

Bitar F, Najjar T, Hayashi R, Nemer G, Shigehara Y, Hamie L, Abbas O, Kibbi A G, Shimomura Y, Kurban M

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Share to Cardiomyopathies
Share to Cardiomyopathy, Dilated
Share to Dental Enamel Hypoplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Keratoderma, Palmoplantar

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Identifiers

PMID: 26833927
DOI: 10.1111/jdv.13549

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A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis.PMID 26833927Read ↗

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Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.Semantic proximity Read ↗

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Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.Semantic proximity Read ↗

Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.Semantic proximity Read ↗

Molecular abnormalities of the desmosomal protein desmoplakin in human disease.Semantic proximity Read ↗

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

Identification and characterization of disease causing genetic variant by conventional genotyping and whole genome sequencing in familial tooth agenesisSemantic proximity Read ↗

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

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