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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015
Fag:
Short Communication
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker