A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report

BACKGROUND: Waardenburg syndrome (WS) is a very rare genetic disorder affecting the neural crest cells. Coexistence of branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) in the same eye is also a rare finding. Here we report a case of WS type 1 that was confirmed by a no...

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Detalles Bibliográficos
Autores principales: Choi, Eun Young, Choi, Wungrak, Lee, Christopher Seungkyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186106/
https://www.ncbi.nlm.nih.gov/pubmed/30314436
http://dx.doi.org/10.1186/s12886-018-0933-9

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