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Article

Duplication 2p16 is associated with perisylvian polymicrogyria.

American journal of medical genetics. Part A - 1 Dec 2019

Amrom Dina, Poduri Annapurna, Goldman Jennifer S, Dan Bernard, Deconinck Nicolas, Pichon Bruno, Nadaf Javad, Andermann Frederick, Andermann Eva, Walsh Christopher A, Dobyns William B

Abstract excerpt

Polymicrogyria (PMG) is a heterogeneous brain malformation that may result from prenatal vascular disruption or infection, or from numerous genetic causes that still remain difficult to identify. We identified three unrelated patients with polymicrogyria and duplications of chromosome 2p, defined the smallest region of overlap, and performed gene pathway analysis using Cytoscape. The smallest region of overlap in...

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Identifiers

PMID: 31660690
DOI: 10.1002/ajmg.a.61342

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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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