Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure

Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide. Most cases are multifactorial in etiology, but some are associated with variants in the myocilin gene, MYOC. Here, we report the identification of a novel MYOC variant, c.1153G>A, in a 24-yr-old female pa...

Descripción completa

Detalles Bibliográficos
Autores principales: Criscione, June, Ji, Weizhen, Jeffries, Lauren, McGrath, James M., Soloway, Scott, Pusztai, Lajos, Lakhani, Saquib
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913140/
https://www.ncbi.nlm.nih.gov/pubmed/31653660
http://dx.doi.org/10.1101/mcs.a004374

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913140/
https://www.ncbi.nlm.nih.gov/pubmed/31653660
http://dx.doi.org/10.1101/mcs.a004374

Ejemplares similares