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Article

Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.

Journal of neurosurgery. Pediatrics - 1 Mar 2023

LoPresti Melissa A, Du Rebecca Y, Lee Jae Eun, Iacobas Ionela, Bergstrom Katie, McClugage Samuel G, Lam Sandi K

Abstract excerpt

OBJECTIVE: Genetic alterations are increasingly recognized as etiologic factors linked to the pathogenesis and development of cerebrovascular anomalies. Their identification allows for advanced screening and targeted therapeutic approaches. The authors aimed to describe the role of a collaborative approach to care and genetic testing in pediatric patients with neurovascular anomalies, with the objectives of...

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Identifiers

PMID: 36681951
DOI: 10.3171/2022.11.PEDS22392

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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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