Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

BACKGROUND: 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspec...

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Detalles Bibliográficos
Autores principales: Soorya, Latha, Kolevzon, Alexander, Zweifach, Jessica, Lim, Teresa, Dobry, Yuriy, Schwartz, Lily, Frank, Yitzchak, Wang, A Ting, Cai, Guiqing, Parkhomenko, Elena, Halpern, Danielle, Grodberg, David, Angarita, Benjamin, Willner, Judith P, Yang, Amy, Canitano, Roberto, Chaplin, William, Betancur, Catalina, Buxbaum, Joseph D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3707861/
https://www.ncbi.nlm.nih.gov/pubmed/23758760
http://dx.doi.org/10.1186/2040-2392-4-18

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