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WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma

WDR36 is one of a number of genes implicated in the pathogenesis of adult-onset primary open angle glaucoma (POAG). Here we describe in detail the phenotype of a patient with pathogenic variation in WDR36 who presented with a protracted history of central vision loss. On exam visual acuities were at...

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Detalles Bibliográficos
Autores principales: Meer, Elana, Aleman, Tomas S., Ross, Ahmara G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536154/
https://www.ncbi.nlm.nih.gov/pubmed/34681019
http://dx.doi.org/10.3390/genes12101624