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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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| Vydáno v: | J Child Neurol |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2015
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| Témata: | |
| On-line přístup: | 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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