NCBO ONTOLOGY RECOMMENDER 2.0: AN ENHANCED APPROACH FOR BIOMEDICAL ONTOLOGY RECOMMENDATION




Angelman syndrome and isovaleric acidemia: What is the link?

We report a turbosound ts-18sw700/8a 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 neurodevelopment, adequate treatment

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