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Article

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.

The British journal of ophthalmology - 1 Oct 2023

Huryn Laryssa A, Flaherty Taylor, Nolen Rosalie, Prasov Lev, Zein Wadih M, Cukras Catherine A, Osgood Sharon, Raja Neelam, Levin Mark D, Vitale Susan, Brooks Brian P, Hufnagel Robert B, Kozel Beth A

Abstract excerpt

BACKGROUND/AIMS: To characterise the ocular manifestations of Williams-Beuren syndrome (WBS) and compare these to patients with isolated elastin mediated supravalvular aortic stenosis (SVAS). METHODS: Fifty-seven patients with a diagnosis of WBS and five with SVAS underwent comprehensive ophthalmic evaluation at the National Institutes of Health from 2017 to 2020, including best-corrected visual acuity, slit-lamp...

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Identifiers

PMID: 35760456
DOI: 10.1136/bjophthalmol-2022-321103
PMCID: PMC10074447

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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