Progress in the pathogenesis and genotype-phenotype of Angelman syndrome
10.3760/cma.j.cn101070-20200716-01197
- VernacularTitle:Angelman综合征发病机制与基因型-表型的研究进展
- Author:
Hongmei RUAN
1
;
Li JIANG
Author Information
1. 重庆医科大学附属儿童医院神经内科，儿童发育疾病研究教育部重点实验室，国家儿童健康与疾病临床医学研究中心（重庆），儿童发育重大疾病国家国际科技合作基地，儿科学重庆市重点实验室，重庆 400014
- Keywords:
Angelman syndrome;
UBE3A gene;
Pathogenesis;
Genotype-phenotype
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(22):1750-1753
- CountryChina
- Language:Chinese
-
Abstract:
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, exuberant behavior with happy demeanor, speech impairment, and epileptic seizures.The loss of UBE3A allele on maternal chromosome 15q11-13 is the main cause of AS.However, the pathogenesis and genotype-phenotype of AS is not yet clear.This study aims to review the research progress of AS.
