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Article

Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.

BMC ophthalmology - 21 May 2014

Todorova Margarita G, Grieshaber Matthias C, Cámara Rafael J A, Miny Peter, Palmowski-Wolfe Anja M

Abstract excerpt

BACKGROUND: Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of Williams-Beuren syndrome, associated with unilateral anterior segment dysgenesis and bilateral cleft...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24885071
DOI: 10.1186/1471-2415-14-70
PMCID: PMC4031488

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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