Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank

Deletions spanning the STS (steroid sulfatase) gene at Xp22.31 are associated with X-linked ichthyosis, corneal opacities, testicular maldescent, cardiac arrhythmia, and higher rates of developmental and mood disorders/traits, possibly related to the smaller volume of some basal ganglia structures....

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Detaylı Bibliyografya
Yayımlandı:Hum Mol Genet
Asıl Yazarlar: Gubb, Samuel J A, Brcic, Lucija, Underwood, Jack F G, Kendall, Kimberley M, Caseras, Xavier, Kirov, George, Davies, William
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
General Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7566349/
https://ncbi.nlm.nih.gov/pubmed/32766777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa174
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