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The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits...

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Detalhes bibliográficos
Main Authors: Phelan, K., McDermid, H.E.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3366702/
https://ncbi.nlm.nih.gov/pubmed/22670140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000334260
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