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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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| Glavni autori: | , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
S. Karger AG
2012
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| Teme: | |
| Online pristup: | 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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