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Article

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.

The British journal of dermatology - 1 Aug 2014

Pohler E, Huber M, Boonen S E, Zamiri M, Gregersen P A, Sommerlund M, Ramsing M, Hohl D, McLean W H I, Smith F J D

Abstract excerpt

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Topics

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Share to Adaptor Proteins, Vesicular Transport
Share to Aged
Share to Keratoderma, Palmoplantar
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24588319
DOI: 10.1111/bjd.12927
PMCID: PMC4282079

Genes

AAGAB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.PMID 24588319Read ↗

Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.Semantic proximity Read ↗

A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.Semantic proximity Read ↗

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.Semantic proximity Read ↗

Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.Semantic proximity Read ↗

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.Semantic proximity Read ↗

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

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.Semantic proximity Read ↗

The inherited palmoplantar keratodermas.Semantic proximity Read ↗

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

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.Semantic proximity Read ↗

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

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.Semantic proximity Read ↗

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