Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deleti...
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
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Publisher
England: BMJ Publishing Group LTD
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Language
English
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Publisher
England: BMJ Publishing Group LTD
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BackgroundX-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, but small samples of relatively young patients has limited this. STS is highly expressed in subc...
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Full title
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7525778
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7525778
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106676
