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Article

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2014

Mirzaa Ghayda M, Poduri Annapurna

Abstract excerpt

Megalencephaly (MEG) is a developmental disorder characterized by brain overgrowth that occurs due to either increased number or size of neurons and glial cells. The former may be due to either increased neuronal proliferation or decreased apoptosis. The degree of brain overgrowth may be extensive, ranging from generalized MEG affecting the entire cortex-as with mutations in PTEN (phosphatase and tensin homolog...

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Identifiers

PMID: 24888963
DOI: 10.1002/ajmg.c.31401

Genes

PTEN

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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