Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank
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DOI: 10.1093/hmg/ddaa174
Abstract: Abstract 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… read more here.
Keywords: neurobehavioural phenotypes; medical neurobehavioural; phenotypes male; duplication carriers ... See more keywords
M155. RECIPROCAL CHANGES IN WHITE MATTER MICROSTRUCTURE IN 22Q11.2 DELETION AND DUPLICATION SYNDROME
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DOI: 10.1093/schbul/sbaa030.467
Abstract: Abstract Background The 22q11.2 deletion syndrome is a neurogenetic disorder that is associated with both physical anomalies and neurocognitive impairments. Deletion carriers have a greatly elevated risk of developing schizophrenia (SCZ); as such, it offers… read more here.
Keywords: duplication; deletion; duplication carriers; 22q11 deletion ... See more keywords