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...

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Publicado en:Sci Rep
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
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Article
Acceso en línea: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
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