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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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Detalles Bibliográficos
Autores principales:	Brcic, Lucija, Underwood, Jack FG, Kendall, Kimberley M, Caseras, Xavier, Kirov, George, Davies, William
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525778/ https://www.ncbi.nlm.nih.gov/pubmed/32139392 http://dx.doi.org/10.1136/jmedgenet-2019-106676

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