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Article

Clinical and Genetic Profiles of 11 Chinese Patients With Angelman Syndrome.

Genetics research - 1 Jan 2025

Qu Song, Sun Pu, Dai Limeng, Song Cui, Wang Yanyan

Abstract excerpt

Angelman syndrome (AS) is a severe neurodevelopmental disorder resulting from different molecular mechanisms. Investigating the correlation between genotypes and phenotypes is crucial to facilitate accurate diagnosis and effective prevention strategies for this disorder. However, determining the genotypes of patients to analyze genotype‒phenotype correlations is challenging when parental genetic information is...

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Identifiers

PMID: 41438619
DOI: 10.1155/genr/5593007
PMCID: PMC12721727

Genes

UBE3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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