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Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations

BACKGROUND: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disor...

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Detalles Bibliográficos
Autores principales:	Oberman, Lindsay M., Boccuto, Luigi, Cascio, Lauren, Sarasua, Sara, Kaufmann, Walter E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549933/ https://www.ncbi.nlm.nih.gov/pubmed/26306707 http://dx.doi.org/10.1186/s13023-015-0323-9

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