Article
Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Oct 2010
Cañueto J, Ciria S, Hernández-Martín A, Unamuno P, González-Sarmiento R
Abstract excerpt
BACKGROUND: Recessive X-linked ichthyosis (RXLI) (OMIM 308100) is a genodermatosis characterized by polygonal, dark, adherent and mild-to-moderate scales that normally improve during summer. RXLI is caused by a deficiency in steroid sulphatase (STS), whose gene has been located on the X chromosome (locus Xp22.3). Up to 90% of the mutations described in this gene are complete deletions. OBJECTIVES: Previous...
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