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Article

The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.

JAMA dermatology - 1 Jan 2015

Spoerri Iris, Brena Michela, De Mesmaeker Julie, Schlipf Nina, Fischer Judith, Tadini Gianluca, Itin Peter H, Burger Bettina

Abstract excerpt

IMPORTANCE: Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor criteria for diagnosis of this rare disorder. OBSERVATIONS: Parallel clinical investigation of 6 patients with IWC revealed a novel spectrum of...

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Source

Identifiers

PMID: 25210931
DOI: 10.1001/jamadermatol.2014.2526

Genes

KRT10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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