A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay

BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder and is characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. Although the maternal chromosomal region 15q11.2‐q13 deletion is the most common mechanism of AS,...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Xuechao, Zheng, Yuting, Wang, Li, Wang, Yanhong, Mei, Shiyue, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000933/
https://www.ncbi.nlm.nih.gov/pubmed/35225435
http://dx.doi.org/10.1002/mgg3.1883

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000933/
https://www.ncbi.nlm.nih.gov/pubmed/35225435
http://dx.doi.org/10.1002/mgg3.1883

Ejemplares similares