Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
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DOI: 10.1136/jmedgenet-2019-106676
Abstract: Background X-linked ichthyosis (XLI) is an uncommon dermatological condition resulting from a deficiency of the enzyme steroid sulfatase (STS), often caused by X-linked deletions spanning STS. Some medical comorbidities have been identified in XLI cases,… read more here.
Keywords: neurobehavioural phenotypes; genetic deletions; deletion carriers; medical neurobehavioural ... See more keywords
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
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DOI: 10.1186/s13256-017-1420-2
Abstract: BackgroundX-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that… read more here.
Keywords: case; linked ichthyosis; report; steroid sulfatase ... See more keywords
Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis
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DOI: 10.3389/fgene.2022.934952
Abstract: Background and aims: X-linked ichthyosis (XLI) is a common recessive genetic disease caused by the deletion of steroid sulfatase (STS) in Xp22.31. Maternal copy-number deletions in Xp22.31 (covering STS) can be considered an incidental benefit… read more here.
Keywords: linked ichthyosis; non invasive; copy number; deletions xp22 ... See more keywords
[Early warning of low maternal unconjugated estriol level by prenatal screening for fetus with X-linked ichthyosis].
Sign Up to like & getrecommendations! Published in 2022 at "Zhonghua fu chan ke za zhi"
DOI: 10.3760/cma.j.cn112141-20220125-00043
Abstract: Objective: To analyze the characteristic of prenatal serological screening in fetus with X-linked ichthyosis (XLI), and to explore the relationship between unconjugated estriol (uE3) levels and XLI. Methods: A total of 56 fetuses with Xp22.31… read more here.
Keywords: ichthyosis; screening fetus; fetus linked; serological screening ... See more keywords