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Article

Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.

HGG advances - 10 Oct 2024

Fujimoto Masanori, Nakamura Yuji, Hosoki Kana, Iwaki Toshihiko, Sato Emi, Ieda Daisuke, Hori Ikumi, Negishi Yutaka, Hattori Ayako, Shiraishi Hideaki, Saitoh Shinji

Abstract excerpt

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of maternal UBE3A. The major cause of AS is a maternal deletion in 15q11.2-q13, and the minor causes are a UBE3A mutation, uniparental disomy (UPD), and imprinting defect (ID). Previous reports suggest that all patients with AS exhibit developmental delay, movement or balance disorders, behavioral characteristics, and...

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Identifiers

PMID: 39169619
DOI: 10.1016/j.xhgg.2024.100342
PMCID: PMC11404063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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