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Article

Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene.

The Journal of dermatology - 1 Jun 2015

Suga Yasushi, Tsuda Tatsuya, Nagai Makoto, Sakaguchi Yoshiko, Jitsukawa Orie, Yamamoto Masaaki, Hitomi Kiyotaka, Yamanishi Kiyofumi

Abstract excerpt

We report a case of a 12-year-old boy who was born as a collodion baby after which thick scales developed on his entire body surface. His younger brother showed a similar skin condition. Arcuate-shaped, large, brownish scales covered his face with ectropion. His lower legs were also covered with larger thick, brownish, plate-like scales, but other areas were covered with smaller scales. Next-generation sequencing...

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Source

Identifiers

PMID: 25808943
DOI: 10.1111/1346-8138.12846

Genes

TGM1

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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Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene.PMID 25808943Read ↗

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