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Full-Text Articles in Medicine and Health Sciences
The Role Of Parental Cognitive, Behavioral, And Motor Profiles In Clinical Variability In Individuals With Chromosome 16p11.2 Deletions, Andres Moreno-De-Luca, David W. Evans, K B. Boomer, Ellen Hanson, R Bernier, R. P. Goin-Kochel, S. M. Myers, Thomas D. Challman, Daniel Moreno-De-Luca, Mylissa M. Slane, Abby E. Hare, W K. Chung, J. Spiro, W. A. Faucett, C. L. Martin, David H. Ledbetter
The Role Of Parental Cognitive, Behavioral, And Motor Profiles In Clinical Variability In Individuals With Chromosome 16p11.2 Deletions, Andres Moreno-De-Luca, David W. Evans, K B. Boomer, Ellen Hanson, R Bernier, R. P. Goin-Kochel, S. M. Myers, Thomas D. Challman, Daniel Moreno-De-Luca, Mylissa M. Slane, Abby E. Hare, W K. Chung, J. Spiro, W. A. Faucett, C. L. Martin, David H. Ledbetter
Faculty Journal Articles
Importance Most disorders caused by copy number variants (CNVs) display significant clinical variability, often referred to as incomplete penetrance and variable expressivity. Genetic and environmental sources of this variability are not well understood.
Objectives To investigate the contributors to phenotypic variability in probands with CNVs involving the same genomic region; to measure the effect size for de novo mutation events; and to explore the contribution of familial background to resulting cognitive, behavioral, and motor performance outcomes in probands with de novo CNVs.
Design, Setting, and Participants Family-based study design with a volunteer sample of 56 individuals with de novo 16p11.2 …