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Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome

Chromosomal microarray analysis is an important diagnostic tool to identify copy number variations (CNV). Some of the CNVs affect susceptibility regions, which means that deletions or duplications in these regions have partial penetrance and often give an increased risk for a spectrum of neurocognit...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Kleinendorst, Lotte, van den Heuvel, Lieke M., Henneman, Lidewij, van Haelst, Mieke M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7608422/
https://ncbi.nlm.nih.gov/pubmed/32415274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0644-6
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