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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Detalles Bibliográficos
Autores principales: Kleinendorst, Lotte, van den Heuvel, Lieke M., Henneman, Lidewij, van Haelst, Mieke M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608422/
https://www.ncbi.nlm.nih.gov/pubmed/32415274
http://dx.doi.org/10.1038/s41431-020-0644-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608422/
https://www.ncbi.nlm.nih.gov/pubmed/32415274
http://dx.doi.org/10.1038/s41431-020-0644-6

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