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Article

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

Acta dermato-venereologica - 1 May 2014

Li Ming, Dai Xunyi, Cheng Ruhong, Yang Lijia, Yao Zhirong, Liu Jiangbo

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24162853
DOI: 10.2340/00015555-1724

Genes

AAGAB

Provenance

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

Related research

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A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.PMID 24162853Read ↗

New and recurrent AAGAB mutations in 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: a novel AAGAB mutation and efficacy of etretinate.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 ↗

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

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

[Molecular genetic study of a family affected with punctate palmoplantar keratoderma].Semantic proximity Read ↗

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

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

Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.Semantic proximity Read ↗

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