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

Internet

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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