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Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry

Abstract Background The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect...

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Principais autores: Rebecca M. Pollak, Melissa M. Murphy, Michael P. Epstein, Michael E. Zwick, Cheryl Klaiman, Celine A. Saulnier, the Emory 3q29 Project, Jennifer G. Mulle
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2019-07-01
Serier:Molecular Autism
Fag:
Autism
Copy number variants
3q29 deletion
Psychiatric genetics
SRS
Developmental delay
Online adgang:http://link.springer.com/article/10.1186/s13229-019-0281-5
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