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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...
Autores principales: | Fetit, Rana, Price, David J., Lawrie, Stephen M., Johnstone, Mandy |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2020
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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 |
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