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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
The 22q13.3 deletion causes a neurodevelopmental syndrome, also known as Phelan-McDermid syndrome (MIM #606232), characterized by developmental delay and severe delay or absence of expressive speech. Two patients with hemizygous chromosome 22q13.3 telomeric deletion were referred to us when brain-im...
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| Autori principali: | , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2012
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3733662/ https://ncbi.nlm.nih.gov/pubmed/23225497 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35700 |
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