Congenital orbital fibrosis: Molecular genetic analysis by whole-exome and mitochondrial genome sequencing

Jaesang Ko, Hyun Joo Lee, Jin Sung Lee, Jin Sook Yoon

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1078-1080
Number of pages3
JournalYonsei medical journal
Volume58
Issue number5
DOIs
Publication statusPublished - 2017

Bibliographical note

Funding 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).

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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