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Article

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations.

Journal of dermatological science - 1 Dec 2015

Nomura Toshifumi, Mizuno Osamu, Miyauchi Toshinari, Suzuki Shotaro, Shinkuma Satoru, Hata Hiroo, Fujita Yasuyuki, Akiyama Masashi, Shimizu Hiroshi

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Share to Desmoglein 1
Share to Keratoderma, Palmoplantar
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Source

Identifiers

PMID: 26493105
DOI: 10.1016/j.jdermsci.2015.10.004

Genes

DSG1

Provenance

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Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations.PMID 26493105Read ↗

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.Semantic proximity Read ↗

Novel mutations in DSG1 causing striate palmoplantar keratoderma.Semantic proximity Read ↗

Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.Semantic proximity Read ↗

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.Semantic proximity Read ↗

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype.Semantic proximity Read ↗

Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.Semantic proximity Read ↗

Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism.Semantic proximity Read ↗

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.Semantic proximity Read ↗

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.Semantic proximity Read ↗

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesSemantic proximity Read ↗

Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.Semantic proximity Read ↗

Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.Semantic proximity Read ↗

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