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Article

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.

Human molecular genetics - 1 Nov 2006

Oji Vinzenz, Hautier Juliette Mazereeuw, Ahvazi Bijan, Hausser Ingrid, Aufenvenne Karin, Walker Tatjana, Seller Natalia, Steijlen Peter M, Küster Wolfgang, Hovnanian Alain, Hennies Hans Christian, Traupe Heiko

Abstract excerpt

Bathing suit ichthyosis (BSI) is a striking and unique clinical form of autosomal recessive congenital ichthyosis characterized by pronounced scaling on the bathing suit areas but sparing of the extremities and the central face. Here we report on a series of 10 BSI patients. Our genetic, ultrastructural and biochemical investigations show that BSI is caused by transglutaminase-1 (TGase-1) deficiency. Altogether,...

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Source

Identifiers

PMID: 16968736
DOI: 10.1093/hmg/ddl249

Genes

TGM1

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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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