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10.3349/ymj.2017.58.5.1078

http://scihub22266oqcxt.onion/10.3349/ymj.2017.58.5.1078
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suck abstract from ncbi


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pmid28792159
      Yonsei+Med+J 2017 ; 58 (5 ): 1078-1080
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  • Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing #MMPMID28792159
  • Ko J ; Lee HJ ; Lee JS ; Yoon JS
  • Yonsei Med J 2017[Sep]; 58 (5 ): 1078-1080 PMID28792159 show ga
  • A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrial genome sequencing. No pathologic mutation was identified in the present case. To our best knowledge, this study presents the first report on the findings of mutational analysis of a patient with congenital orbital fibrosis.
  • |*Exome Sequencing [MESH]
  • |*Genome, Mitochondrial [MESH]
  • |Child, Preschool [MESH]
  • |DNA Mutational Analysis [MESH]
  • |Female [MESH]
  • |Fibrosis [MESH]
  • |Fundus Oculi [MESH]
  • |Humans [MESH]
  • |Magnetic Resonance Imaging [MESH]
  • |Mutation/genetics [MESH]
  • |Orbit/*pathology [MESH]


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