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Article

A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype.

The British journal of dermatology - 1 Jan 2003

Akiyama M, Takizawa Y, Suzuki Y, Shimizu H

Abstract excerpt

Malformation of the cornified cell envelope (CCE) arising from mutations of the transglutaminase (TGase) 1 gene (TGM1) is the cause of some cases of lamellar ichthyosis (LI). However, genotype/phenotype correlation in TGM1 mutations has not yet been fully clarified. We report a typical case of LI caused by a novel mutation in TGM1. The patient, a 33-year-old woman, showed thick, lamellar scales on the entire body...

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Source

Identifiers

PMID: 12534611
DOI: 10.1046/j.1365-2133.2003.05041.x

Genes

TGM1

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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