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KMID : 0311120170580051078
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Yonsei Medical Journal
2017 Volume.58 No. 5 p.1078 ~ p.1080
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Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
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Ko Jae-Sang
Yoon Jin-Sook
Lee Hyun-Joo
Lee Jin-Sung
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Abstract
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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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KEYWORD
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Fibrosis, orbit, DNA mutational analysis
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