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

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Bibliographic Details
Title: A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Authors: Velez G; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA.; Medical Scientist Training Program, University of Iowa, Iowa City, Iowa 52242, USA., Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA., Schaefer KA; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA., Brooks B; Pediatric, Developmental, and Genetic Eye Disease Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA., Gakhar L; Department of Biochemistry, University of Iowa, Iowa City, Iowa 52242, USA.; Protein Crystallography Facility, University of Iowa, Iowa City, Iowa 52242, USA., Mahajan M; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA., Kahn P; Department of Pediatrics, Division of Pediatric Rheumatology, New York University, New York, New York 10016, USA., Tsang SH; Barbara and Donald Jonas Laboratory of Stem Cells and Regenerative Medicine and Bernard & Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, Columbia University, New York, New York 10016, USA.; Department of Pathology & Cell Biology, College of Physicians & Surgeons, Columbia University, New York, New York 10032, USA., Ferguson PJ; Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA., Mahajan VB; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA.; Palo Alto Veterans Administration, Palo Alto, California 94538, USA.
Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Jun 01; Vol. 4 (3). Date of Electronic Publication: 2018 Jun 01 (Print Publication: 2018).
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2373-2873
DOI:10.1101/mcs.a002519