Article
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.
PloS one - 1 Jan 2016
Shirley Matthew D, Frelin Laurence, López José Soria, Jedlicka Anne, Dziedzic Amanda, Frank-Crawford Michelle A, Silverman Wayne, Hagopian Louis, Pevsner Jonathan
Abstract excerpt
Copy number variants (CNVs) were detected and analyzed in 14 probands with autism and intellectual disability with self-injurious behavior (SIB) resulting in tissue damage. For each proband we obtained a clinical history and detailed behavioral descriptions. Genetic anomalies were observed in all probands, and likely clinical significance could be established in four cases. This included two cases having novel,...
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