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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Bibliografiska uppgifter
I publikationen:J Med Genet
Huvudupphovsmän: Brcic, Lucija, Underwood, Jack FG, Kendall, Kimberley M, Caseras, Xavier, Kirov, George, Davies, William
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Publishing Group 2020
Ämnen:
Genotype-Phenotype Correlations
Länkar: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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