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An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Genes - 14 Aug 2022

Du Xiaonan, Wang Ji, Li Shuang, Ma Yu, Wang Tianqi, Wu Bingbing, Zhou Yuanfeng, Yu Lifei, Wang Yi

Abstract excerpt

Angelman syndrome (AS) is a neurodevelopmental genetic disorder, but there has been limited analysis of a large cohort of Chinese children with Angelman syndrome. This study aims to assess the phenotype and genotype of Chinese children with Angelman syndrome. We retrospectively analyzed data through a detailed online survey combined with an on-site study. Furthermore, phenotype analysis stratified by deletion and...

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Identifiers

PMID: 36011358
DOI: 10.3390/genes13081447
PMCID: PMC9408022

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