Neurodevelopmental Profile of Siblings with Angelman Syndrome due to pathogenic UBE3A variants

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternally-inherited UBE3A gene on chromosome 15. Individuals with AS due to a UBE3A mutation are more likely to have siblings who also have AS compared to those with AS due to other cytogenetic...

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Xehetasun bibliografikoak
Argitaratua izan da:J Intellect Disabil Res
Egile Nagusiak: Sadhwani, Anjali, Willen, Jennifer M., Miller, Hillary, Barbieri-Welge, Rene, Horowitz, Lucia T., Noll, Lisa M., Peters, Sarika, Hundley, Rachel, Bird, Lynne M., Tan, Wen-Hann
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2019
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8020893/
https://ncbi.nlm.nih.gov/pubmed/31854050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jir.12700
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