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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750580/
https://www.ncbi.nlm.nih.gov/pubmed/26937393
http://dx.doi.org/10.1016/j.ymgmr.2015.03.004

Ejemplares similares

Ejemplares similares