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Article

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

American journal of human genetics - 2 May 2019

Karasozen Yigit, Osbun Joshua W, Parada Carolina Angelica, Busald Tina, Tatman Philip, Gonzalez-Cuyar Luis F, Hale Christopher J, Alcantara Diana, O'Driscoll Mark, Dobyns William B, Murray Mitzi, Kim Louis J, Byers Peter, Dorschner Michael O, Ferreira Manuel

Abstract excerpt

The role of somatic genetic variants in the pathogenesis of intracranial-aneurysm formation is unknown. We identified a 23-year-old man with progressive, right-sided intracranial aneurysms, ipsilateral to an impressive cutaneous phenotype. The index individual underwent a series of genetic evaluations for known connective-tissue disorders, but the evaluations were unrevealing. Paired-sample exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31031011
DOI: 10.1016/j.ajhg.2019.03.014
PMCID: PMC6506794

Genes

PDGFRB
SRC

Variants

Provenance

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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