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Article

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

American journal of medical genetics. Part A - 1 Oct 2021

Ueda Kimiko, Ogawa Satoru, Matsuda Keiko, Hasegawa Yuiko, Nishi Eriko, Yanagi Kumiko, Kaname Tadashi, Yamamoto Toshiyuki, Okamoto Nobuhiko

Abstract excerpt

Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability (ID), a distinctive gait pattern, abnormal behaviors, severe impairment in language development, and characteristic facial features. Most cases are caused by the absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Here, we present the first reported case of a 3-year-old boy with an atypical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34042275
DOI: 10.1002/ajmg.a.62371

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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