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The Severe End of the Spectrum: Hypoplastic Left Heart in Potocki-Lupski syndrome
Potocki-Lupski syndrome (PTLS) is a recently described microduplication syndrome associated with duplication 17p11.2, including the RAI1 gene. Features of PTLS include hypotonia, feeding difficulties, failure to thrive, developmental delay and behavioral abnormalities including autistic spectrum dis...
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| Main Authors: | , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2011
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3092288/ https://ncbi.nlm.nih.gov/pubmed/21271655 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33844 |
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