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Article

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

American journal of human genetics - 5 Oct 2012

Giehl Kathrin A, Eckstein Gertrud N, Pasternack Sandra M, Praetzel-Wunder Silke, Ruzicka Thomas, Lichtner Peter, Seidl Kerstin, Rogers Mike, Graf Elisabeth, Langbein Lutz, Braun-Falco Markus, Betz Regina C, Strom Tim M

Abstract excerpt

Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. To date, two different loci in chromosomal regions 15q22-15q24 and 8q24.13-8q24.21 have been reported. Pathogenic mutations, however, have yet to be identified. In order to elucidate the genetic cause of PPKP type...

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Identifiers

PMID: 23000146
DOI: 10.1016/j.ajhg.2012.08.024
PMCID: PMC3484507

Genes

AAGAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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