Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients. In one patient we identified two rare, recessiv...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Ferre-Fernández, Jesús-José, Aroca-Aguilar, José-Daniel, Medina-Trillo, Cristina, Bonet-Fernández, Juan-Manuel, Méndez-Hernández, Carmen-Dora, Morales-Fernández, Laura, Corton, Marta, Cabañero-Valera, María-José, Gut, Marta, Tonda, Raul, Ayuso, Carmen, Coca-Prados, Miguel, García-Feijoo, Julián, Escribano, Julio
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5387416/
https://ncbi.nlm.nih.gov/pubmed/28397860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep46175
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars