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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3707861/
https://ncbi.nlm.nih.gov/pubmed/23758760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2040-2392-4-18
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