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

Internet

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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