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Article

Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation.

The Journal of investigative dermatology - 1 Feb 2003

Raghunath Michael, Hennies Hans-Christian, Ahvazi Bijan, Vogel Melanie, Reis Andre, Steinert Peter M, Traupe Heiko

Abstract excerpt

Spontaneous healing with no or only very mild ichthyosis distinguishes the "self-healing collodion baby" from other congenital ichthyoses. In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G. Molecular modeling and biochemical assays of mutant proteins under elevated hydrostatic...

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Identifiers

PMID: 12542526
DOI: 10.1046/j.1523-1747.2003.12032.x

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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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