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Prader-Willi, Angelman, and 15q11-q13 duplication syndromes

Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome (PWS), Angelman syndrome (AS), and 15q11-q13 duplication syndrome (Dup15q syndrome). Each of these disorders results from the loss of function or over-e...

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Publicado en:Pediatr Clin North Am
Main Authors: Kalsner, Louisa, Chamberlain, Stormy J.
Formato: Artigo
Idioma:Inglês
Publicado: 2015
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4449422/
https://ncbi.nlm.nih.gov/pubmed/26022164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pcl.2015.03.004
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