Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.
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ABSTRACT:
SUBMITTER: Shirley MD
PROVIDER: S-EPMC4774994 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Publications
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.
Shirley Matthew D MD Frelin Laurence L López José Soria JS Jedlicka Anne A Dziedzic Amanda A Frank-Crawford Michelle A MA Silverman Wayne W Hagopian Louis L Pevsner Jonathan J
PloS one 20160302 3
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, de novo copy number variants and two cases having variants likely to have functional ...[more]
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