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