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 journalArticle

1 Citation (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 Jan 1

Fingerprint

Exome
Mitochondrial Genome
Molecular Biology
Fibrosis
Mutation

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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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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Congenital orbital fibrosis : Molecular genetic analysis by whole-exome and mitochondrial genome sequencing. / Ko, Jaesang; Lee, Hyun Joo; Lee, Jin Sung; Yoon, Jin Sook.

In: Yonsei medical journal, Vol. 58, No. 5, 01.01.2017, p. 1078-1080.

Research output: Contribution to journalArticle

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AU - Yoon, Jin Sook

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