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Article

Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

AJNR. American journal of neuroradiology - 1 Feb 2023

Desai N K, Kralik S F, Edmond J C, Shah V, Huisman T A G M, Rech M, Schaaf C P

Abstract excerpt

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in NR2F1 (COUP-TF1), characterized by visual impairment secondary to optic nerve hypoplasia and/or atrophy, developmental and cognitive delay, and seizures. This study reports common neuroimaging findings in a cohort of 21 individuals with BBSOAS that collectively suggest the diagnosis. These include...

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Identifiers

PMID: 36702506
DOI: 10.3174/ajnr.A7758
PMCID: PMC9891320

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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