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Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma

Congenital glaucoma (CG) is a severe and inherited childhood optical neuropathy that leads to irreversible visual loss and blindness in children. CG pathogenesis remains largely unexplained in most patients. Herein we have extended our previous studies to evaluate the role of FOXC2 and PITX2 variant...

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Detalles Bibliográficos
Autores principales: Medina-Trillo, Cristina, Aroca-Aguilar, José-Daniel, Ferre-Fernández, Jesús-José, Alexandre-Moreno, Susana, Morales, Laura, Méndez-Hernández, Carmen-Dora, García-Feijoo, Julián, Escribano, Julio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338360/
https://www.ncbi.nlm.nih.gov/pubmed/30657791
http://dx.doi.org/10.1371/journal.pone.0211029