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Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children

Copy number variants (CNVs) are genetic rearrangements, such as deletions and duplications, which result in a deviation from the normal number of copies of a given gene segment. CNVs are implicated in many neuropsychiatric disorders. Deletions of the human chromosomal region 16p11.2 are one of the m...

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Detalles Bibliográficos
Autores principales: Fetit, Rana, Price, David J., Lawrie, Stephen M., Johnstone, Mandy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497286/
https://www.ncbi.nlm.nih.gov/pubmed/32732550
http://dx.doi.org/10.1097/YPG.0000000000000259