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Article

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

The Journal of investigative dermatology - 1 Dec 2013

Pöhler Elizabeth, Zamiri Mozheh, Harkins Catriona P, Salas-Alanis Julio C, Perkins William, Smith Frances J D, Irwin McLean W H, Brown Sara J

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Share to Adaptor Proteins, Vesicular Transport
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Intercellular Signaling Peptides and Proteins

Share to Keratoderma, Palmoplantar

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Identifiers

PMID: 23743648
DOI: 10.1038/jid.2013.243
PMCID: PMC3826975

Genes

AAGAB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.PMID 23743648Read ↗

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.Semantic proximity Read ↗

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

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

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

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

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

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.Semantic proximity Read ↗

A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.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: an unusual mutation causing an unusual phenotype.Semantic proximity Read ↗

The inherited palmoplantar keratodermas.Semantic proximity Read ↗

Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7.Semantic proximity Read ↗

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