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Article

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

The Journal of clinical investigation - 1 Apr 2015

Choate Keith A, Lu Yin, Zhou Jing, Elias Peter M, Zaidi Samir, Paller Amy S, Farhi Anita, Nelson-Williams Carol, Crumrine Debra, Milstone Leonard M, Lifton Richard P

Abstract excerpt

Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disorder that is characterized by progressive development of hundreds of normal skin spots via revertant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25774499
DOI: 10.1172/JCI64415
PMCID: PMC4396494

Genes

KRT1
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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Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.PMID 25774499Read ↗

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