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...
Κύριοι συγγραφείς: | Mountford, HS, Bishop, DVM, Thompson, PA, Simpson, NH, Newbury, DF |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
Wiley
2020
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Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
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Stage 2 registered report: variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis
ανά: Newbury, DF, κ.ά.
Έκδοση: (2018) -
Stage 1 Registered Report: Variation in
neurodevelopmental outcomes in children with sex
chromosome trisomies: protocol for a test of the double hit
hypothesis
ανά: Newbury, D, κ.ά.
Έκδοση: (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]
ανά: Dianne F. Newbury, κ.ά.
Έκδοση: (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]
ανά: Dianne F. Newbury, κ.ά.
Έκδοση: (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]
ανά: Dianne F. Newbury, κ.ά.
Έκδοση: (2021-06-01)