A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

Mutations that activate the protease calpain-5 (CAPN5) cause a nonsyndromic adult-onset autoinflammatory eye disease characterized by uveitis, altered synaptic signaling, retinal degeneration, neovascularization, and intraocular fibrosis. We describe a pediatric patient with severe inflammatory vitr...

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Detalles Bibliográficos
Autores principales: Velez, Gabriel, Bassuk, Alexander G., Schaefer, Kellie A., Brooks, Brian, Gakhar, Lokesh, Mahajan, MaryAnn, Kahn, Philip, Tsang, Stephen H., Ferguson, Polly J., Mahajan, Vinit B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983175/
https://www.ncbi.nlm.nih.gov/pubmed/29472286
http://dx.doi.org/10.1101/mcs.a002519

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983175/
https://www.ncbi.nlm.nih.gov/pubmed/29472286
http://dx.doi.org/10.1101/mcs.a002519

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