Yonsei Med J.
2017 Sep;58(5):1078-1080. 10.3349/ymj.2017.58.5.1078.
Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
- Affiliations
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- 1Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. yoonjs@yuhs.ac
- 2Department of Clinical Genetics, Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
- KMID: 2418951
- DOI: http://doi.org/10.3349/ymj.2017.58.5.1078
Abstract
- 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.
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