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

TitleA novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay
Publication TypeJournal Article
Year of Publication2018
AuthorsVelez, Gabriel, Bassuk Alexander G., Schaefer Kellie A., Brooks Brian, Gakhar Lokesh, Mahajan Maryann, Kahn Philip, Tsang Stephen H., Ferguson Polly J., and Mahajan Vinit B.
JournalMolecular Case Studies
Paginationmcs–a002519
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