Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

<b> </b>Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsy...

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Bibliographic Details
Main Authors: Natália Oliva-Teles, Maria Chiara de Stefano, Louise Gallagher, Severin Rakic, Paula Jorge, Goran Cuturilo, Silvana Markovska-Simoska, Isabella Borg, Jeanne Wolstencroft, Zeynep Tümer, Adrian J. Harwood, Yllka Kodra, David Skuse
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:International Journal of Environmental Research and Public Health
Subjects:
16p11.2 deletion
16p11.2 duplication
BP4–BP5
copy numbers variants
neurodevelopmental disorders
rare diseases
Online Access:https://www.mdpi.com/1660-4601/17/24/9253

Internet

https://www.mdpi.com/1660-4601/17/24/9253

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