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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....
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7566349/ https://www.ncbi.nlm.nih.gov/pubmed/32766777 http://dx.doi.org/10.1093/hmg/ddaa174 |