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Article

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

American journal of medical genetics. Part A - 1 Aug 2013

Wang David, Zeesman Susan, Tarnopolsky Mark A, Nowaczyk Małgorzata J M

Abstract excerpt

Somatic and germline duplications of AKT3 and activating mutations of this gene have been reported in individuals with megalencephaly and hemimegalencephaly. We report on a patient with macrocephaly and a 3 Mb duplication on 1q43q44 that includes AKT3. This duplication was detected by array comparative genomic hybridization. The patient presented with moderate developmental delays in gross motor movements and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23794269
DOI: 10.1002/ajmg.a.35999

Genes

AKT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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