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Article

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Cold Spring Harbor molecular case studies - 1 Sept 2017

Griffin Nicole G, Cronin Kenneth D, Walley Nicole M, Hulette Christine M, Grant Gerald A, Mikati Mohamad A, LaBreche Heather G, Rehder Catherine W, Allen Andrew S, Crino Peter B, Heinzen Erin L

Abstract excerpt

Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target of rapamycin (mTOR) regulatory genes have been implicated in some HME cases; however, ∼70% have no identified genetic etiology. Here, we screened two HME patients to identify disease-causing somatic variants. DNA from leukocytes, buccal swabs, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28864461
DOI: 10.1101/mcs.a001735
PMCID: PMC5593155

Genes

MTOR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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