Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

Clinical genetics - 1 Apr 2014

Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Hydrocephalus
Share to Infant
Share to Megalencephaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phosphatidylinositol 3-Kinases

Share to Polydactyly

Share to Proto-Oncogene Proteins c-akt

Share to Syndrome

Source

Identifiers

PMID: 23745724
DOI: 10.1111/cge.12188

Genes

AKT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.PMID 23745724Read ↗

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

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.Semantic proximity Read ↗

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephalySemantic proximity Read ↗

Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.Semantic proximity Read ↗

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.Semantic proximity Read ↗

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delaySemantic proximity Read ↗

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Semantic proximity Read ↗

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.Semantic proximity Read ↗

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Semantic proximity Read ↗

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.Semantic proximity Read ↗

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.Semantic proximity Read ↗

Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.