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Article

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

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2010

Bai Jin-li, Song Fang, Zou Li-ping, Yang Xin-ying, Qu Yu-jin, Wang Li-wen, Yang Yan-ling, Jin Yu-wei, Wang Hong

Abstract excerpt

OBJECTIVE: Angelman syndrome (AS) is a neurodevelopmental genetic disorder that maps to 15q11-13. The primary phenotypes are attributable to loss of expression of imprinted UBE3A gene within this region which can arise by means of a number of mechanisms. The purpose of this study was to make a genetic diagnosis and to analyze the clinical features in suspected patients with AS. METHOD: A total of 17 cases were...

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Identifiers

PMID: 21215190

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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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