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Phelan McDermid syndrome: from genetic discoveries to animal models and treatments

Phelan McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by generalized developmental delay, intellectual disability, absent or delayed speech, seizures, autism spectrum disorder, neonatal hypotonia, physical dysmorphic features, and recurrent m...

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Pubblicato in:J Child Neurol
Autori principali: Harony-Nicolas, Hala, De Rubeis, Silvia, Buxbaum, Joseph D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5321557/
https://ncbi.nlm.nih.gov/pubmed/26350728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073815600872
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