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Article

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank.

Journal of medical genetics - 1 Oct 2020

Brcic Lucija, Underwood Jack Fg, Kendall Kimberley M, Caseras Xavier, Kirov George, Davies William

Abstract excerpt

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 patients has limited this. STS is highly expressed in subcortical brain structures, and males with XLI and female deletion...

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Identifiers

PMID: 32139392
DOI: 10.1136/jmedgenet-2019-106676
PMCID: PMC7525778

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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