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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2014
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Materias: | |
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 |