Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy.
Sex chromosome trisomies (SCTs) (XXX, XXY, and XYY karyotypes) are associated with an elevated risk of neurodevelopmental disorders. The range of severity of the phenotype is substantial. We considered whether this variable outcome was related to the presence of copy number variants (CNVs)—stretches...
Үндсэн зохиолчид: | Mountford, HS, Bishop, DVM, Thompson, PA, Simpson, NH, Newbury, DF |
---|---|
Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
Wiley
2020
|
Ижил төстэй зүйлс
Ижил төстэй зүйлс
-
Stage 2 registered report: variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis
-н: Newbury, DF, зэрэг
Хэвлэсэн: (2018) -
Stage 1 Registered Report: Variation in
neurodevelopmental outcomes in children with sex
chromosome trisomies: protocol for a test of the double hit
hypothesis
-н: Newbury, D, зэрэг
Хэвлэсэн: (2018) -
Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis [version 1; referees: 2 approved]
-н: Dianne F. Newbury, зэрэг
Хэвлэсэн: (2018-07-01) -
Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis [version 3; peer review: 2 approved]
-н: Dianne F. Newbury, зэрэг
Хэвлэсэн: (2020-09-01) -
Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis [version 4; peer review: 2 approved]
-н: Dianne F. Newbury, зэрэг
Хэвлэсэн: (2021-06-01)