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Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis

15 Feb 2019

Abstract excerpt

X-linked ichthyosis (XLI) is a rare X-linked dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). STS is normally expressed in the brain, and males with XLI exhibit personality differences from males in the general population, and are at increased risk of developmental and mood disorders. As the STS gene escapes X-inactivation, female carriers of XLI-associated genetic...

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PMID: 30768640
DOI: 10.1371/journal.pone.0212330

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