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Article

Ocular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.

BMC ophthalmology - 5 Dec 2024

Kim Jae Won, Kim Sook-Young, Lee Donghun

Abstract excerpt

BACKGROUND: Baraitser-Winter syndrome (BWS) is rare, and no previous reports have described the visual course of patients with this condition. Herein, we report the long-term visual outcomes and ocular features of a 6-year-old patient diagnosed with BWS. CASE PRESENTATION: A 6-year-old female patient visited our clinic complaining of low vision. External examination revealed mild ptosis and hypertelorism, and the...

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Identifiers

PMID: 39639254
DOI: 10.1186/s12886-024-03791-1
PMCID: PMC11619142

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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