Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis

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. Fu...

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Veröffentlicht in:Journal of investigative dermatology 2007-12, Vol.127 (12), p.2795-2798
Hauptverfasser: Liao, Haihui, Waters, Alex J., Goudie, David R., Aitken, David A., Graham, Gordon, Smith, Frances J.D., Lewis-Jones, Sue, Irwin McLean, W.H.
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Sprache:eng
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