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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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Detalhes bibliográficos
Main Authors: Sanchez-Valle, Amarilis, Pierpont, Mary Ella, Potocki, Lorraine
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha: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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