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Yonsei medical journal · Sep 2017
Case ReportsCongenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.
- JaeSang Ko, Hyun Joo Lee, Jin Sung Lee, and Jin Sook Yoon.
- Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.
- Yonsei Med. J. 2017 Sep 1; 58 (5): 107810801078-1080.
AbstractA 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.© Copyright: Yonsei University College of Medicine 2017.
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