Angelman syndrome and isovaleric acidemia: What is the link?

We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevel...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750580/
https://ncbi.nlm.nih.gov/pubmed/26937393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.03.004
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