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Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of ap...

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Detalles Bibliográficos
Autores principales:	Egger, Jos I M, Verhoeven, Willem M A, Verbeeck, Wim, de Leeuw, Nicole
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove Medical Press 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971941/ https://www.ncbi.nlm.nih.gov/pubmed/24707176 http://dx.doi.org/10.2147/NDT.S58684

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