Article

Clinical and Genetic Characterization of Angelman Syndrome in a Chinese Cohort: UBE3A Variant Spectrum Expansion and Utility of Long-read Sequencing

2026-08-25

Abstract excerpt

<title>Abstract</title> <p> Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability and epileptic seizures, primarily caused by dysfunction of the maternal <italic>UBE3A</italic> gene in the 15q11.2 region. The genetic etiology is heterogeneous, including maternal 15q11-q13 deletions, paternal uniparental disomy (UPD) of chromosome 15, maternal pathogenic <itali...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 8a205ce0-2b54-545d-8aee-b4bf244ae939
DOI: 10.21203/rs.3.rs-10128733/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical and Genetic Characterization of Angelman Syndrome in a Chinese Cohort: UBE3A Variant Spectrum Expansion and Utility of Long-read SequencingDOI 10.21203/rs.3.rs-10128733/v1Read

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

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

Molecular and Clinical Aspects of Angelman SyndromeSemantic proximity Read

[Analysis of clinical phenotype and genetic variants in a Chinese pedigree affected with Angelman syndrome].Semantic proximity Read

Angelman syndrome: a review of the clinical and genetic aspects.Semantic proximity Read

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.Semantic proximity Read

Angelman syndrome: a review of clinical and genetic aspects.Semantic proximity Read

Molecular and clinical characterization of Angelman syndrome in Chinese patients.Semantic proximity Read

Clinical and Genetic Insights into Angelman Syndrome: A Retrospective Study of 26 Cases in Morocco.Semantic proximity Read

Mutation Update for UBE3A variants in Angelman syndrome.Semantic proximity Read

New genes involved in Angelman syndrome-like: expanding the genetic spectrumSemantic proximity Read

[Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13].Semantic proximity Read