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Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
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, but small samples of relatively young patien...
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| Gepubliceerd in: | J Med Genet |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMJ Publishing Group
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7525778/ https://ncbi.nlm.nih.gov/pubmed/32139392 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106676 |
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