Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10074447/
https://www.ncbi.nlm.nih.gov/pubmed/35760456
http://dx.doi.org/10.1136/bjophthalmol-2022-321103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10074447/
https://www.ncbi.nlm.nih.gov/pubmed/35760456
http://dx.doi.org/10.1136/bjophthalmol-2022-321103

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