Two siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report

Angelman syndrome (AS) is an autosomal dominant neurodevelopmental genetic disease with maternal imprint, which is associated with the presence of the abnormal chromosome 15q11-q13, and the loss of maternal specific expression of ubiquitin-protein ligase E3A (UBE3A). The expression levels of UBE3A d...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Can, Liu, Rui-Hua, Sun, Guang-Fei, Yang, Lin, Zheng, Qin-Liang, Wei, Shan-Ying, Kong, Qing-Xia, Li, Qiu-Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9112374/
https://www.ncbi.nlm.nih.gov/pubmed/35620312
http://dx.doi.org/10.3892/br.2022.1531

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9112374/
https://www.ncbi.nlm.nih.gov/pubmed/35620312
http://dx.doi.org/10.3892/br.2022.1531

Ejemplares similares