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Article

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.

American journal of human genetics - 1 May 1998

Hennies H C, Küster W, Wiebe V, Krebsová A, Reis A

Abstract excerpt

Autosomal recessive lamellar ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns. Recently, mutations have been identified in patients with lamellar ichthyosis in the TGM1 gene coding for keratinocyte transglutaminase, and a second locus has been mapped to chromosome 2. We have now analyzed the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9545389
DOI: 10.1086/301818
PMCID: PMC1377076

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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