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Photo Quiz: A 9-Year-Old Girl with Eye Swelling and Drainage.

Autor: Long EB; Department of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, North Carolina, USA., Patel NC; Department of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, North Carolina, USA niraj.patel@carolinashealthcare.org., Sautter RL; Carolinas Pathology Group, Charlotte, North Carolina, USA., Antoszyk J; Charlotte Eye, Ear, Nose, and Throat Associates, Charlotte, North Carolina, USA., Dollar JD; Carolinas Pathology Group, Charlotte, North Carolina, USA., Rupar D; Department of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, North Carolina, USA.

Publikováno v: Journal of clinical microbiology [J Clin Microbiol] 2018 Mar 26; Vol. 56 (4). Date of Electronic Publication: 2018 Mar 26 (Print Publication: 2018).

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

Autor: Duis J; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD. jduis1@jhmi.edu., Dean S; Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD., Applegate C; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD., Harper A; Carolinas Pediatric Neurology Care, Charlotte, NC., Xiao R; Department of Molecular and Human Genetics, Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX., He W; Department of Molecular and Human Genetics, Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX., Dollar JD; Carolinas Pathology Group, Charlotte, NC., Sun LR; Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD., Waberski MB; Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Crawford TO; Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD., Stafstrom CE; Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.

Publikováno v: Annals of neurology [Ann Neurol] 2016 Oct; Vol. 80 (4), pp. 633-7. Date of Electronic Publication: 2016 Aug 24.