Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank
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DOI: 10.1093/hmg/ddaa174
Abstract: Abstract Deletions spanning the STS (steroid sulfatase) gene at Xp22.31 are associated with X-linked ichthyosis, corneal opacities, testicular maldescent, cardiac arrhythmia, and higher rates of developmental and mood disorders/traits, possibly related to the smaller volume… read more here.
Keywords: neurobehavioural phenotypes; medical neurobehavioural; phenotypes male; duplication carriers ... See more keywords
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
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