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Article

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

The Journal of investigative dermatology - 1 Dec 2007

Liao Haihui, Waters Alex J, Goudie David R, Aitken David A, Graham Gordon, Smith Frances J D, Lewis-Jones Sue, McLean W H Irwin

Abstract excerpt

Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense mutation T165I. Furthermore, the more severely affected patient also carried heterozygous FLG mutation R501X, which was absent from...

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Source

Identifiers

PMID: 17657246
DOI: 10.1038/sj.jid.5700971

Genes

FLG
STS

Variants

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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Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.PMID 17657246Read ↗

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