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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Dades bibliogràfiques
Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2018
Matèries:
Research Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5983175/
https://ncbi.nlm.nih.gov/pubmed/29472286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002519
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