title: Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis.
authors.affiliation: Department of Ophthalmology, Storm Eye Institute, Medical University of South Carolina, Charleston, South Carolina. Electronic address: bsdeacon@uams.edu.
authors.forename: Brita S
authors.initials: BS
authors.lastname: Deacon
authors.affiliation: Department of Pediatrics, MUSC Children's Hospital, Medical University of South Carolina, Charleston, South Carolina.
authors.forename: Jane M
authors.initials: JM
authors.lastname: Charles
authors.affiliation: Department of Ophthalmology, Storm Eye Institute, Medical University of South Carolina, Charleston, South Carolina.
authors.forename: Edward W
authors.initials: EW
authors.lastname: Cheeseman
authors.affiliation: Greenwood Genetic Center, North Charleston, South Carolina.
authors.forename: Sara S
authors.initials: SS
authors.lastname: Cathey
mesh_terms: D001284:Atrophy / Q000209:etiology / Q000473:pathology; D002648:Child; D003941:Diagnostic Techniques, Ophthalmological; D005123:Eye / Q000473:pathology*; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics; D009900:Optic Nerve / Q000473:pathology; D014792:Visual Acuity / Q000502:physiology
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones