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.
Bibliographical noteFunding Information:
This work was supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute, funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI14C1324).
© Yonsei University College of Medicine 2017.
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