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X-Linked Ichthyosis: New Insights Into a Multi-System Disorder

17 Oct 2022

Abstract excerpt

Background: X-linked ichthyosis (XLI) is a rare genetic condition almostexclusively affecting males; it is characterised by abnormal desquamation and retentionhyperkeratosis, and presents with polygonal brown scales. Most cases resultfrom genetic deletions within Xp22.31 spanning the STS (steroid sulfatase)gene, with the remaining cases resulting from STS-specific mutations. For manyyears it has been recognised...

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PMID: 36479267
DOI: 10.1002/ski2.179

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