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Article

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 May 2013

Mirzaa Ghayda M, Rivière Jean-Baptiste, Dobyns William B

Abstract excerpt

The megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP) syndromes are highly recognizable and partly overlapping disorders of brain overgrowth (megalencephaly). Both syndromes are characterized by congenital or early postnatal megalencephaly, with a high risk for progressive ventriculomegaly leading to hydrocephalus and cerebellar tonsillar ectopia...

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Source

Identifiers

PMID: 23592320
DOI: 10.1002/ajmg.c.31361

Genes

AKT3

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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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.PMID 23592320Read ↗

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