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Chromosomal Microarray Analysis in Clinical Evaluation of Neurodevelopmental Disorders-Reporting a Novel Deletion of SETDB1 and Illustration of Counseling Challenge
BACKGROUND: The pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is well supported by research literature. However, few studies have evaluated the utility and counseling challenges of CNV analysis in the clinic. METHODS: We analyzed the findings of CNV studies from a coh...
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| Publié dans: | Pediatr Res |
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| Auteurs principaux: | , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5382808/ https://ncbi.nlm.nih.gov/pubmed/27119313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/pr.2016.101 |
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