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Article

ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development.

AJNR. American journal of neuroradiology - 1 Jan 2022

Subramanian S, Biswas A, Alves C A P F, Sudhakar S V, Shekdar K V, Krishnan P, Shroff M, Taranath A, Arrigoni F, Aldinger K A, Leventer R J, Dobyns W B, Mankad K

Abstract excerpt

BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients with ACTA2 pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development. MATERIALS AND...

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Identifiers

PMID: 34857515
DOI: 10.3174/ajnr.A7364
PMCID: PMC8757559

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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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