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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....

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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 2 Sept 2026. Prepared record publication-17657246-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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