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Article

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.

The British journal of dermatology - 1 Apr 2001

Cserhalmi-Friedman P B, Milstone L M, Christiano A M

Abstract excerpt

BACKGROUND: Autosomal recessive lamellar ichthyosis (ARLI) is a clinically and genetically heterogeneous disorder. In many cases, mutations in the transglutaminase 1 gene (TGM1) have been identified, however, other clinically indistinguishable cases have been linked to chromosomes 2, 3 and 19. Previous studies have failed to establish any correlation between clinical characteristics and genetic mutations....

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Source

Identifiers

PMID: 11298529
DOI: 10.1046/j.1365-2133.2001.04126.x

Genes

TGM1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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