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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6338360/
https://ncbi.nlm.nih.gov/pubmed/30657791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0211029
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