Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.
10.3349/ymj.2017.58.5.1078
- Author:
JaeSang KO
1
;
Hyun Joo LEE
;
Jin Sung LEE
;
Jin Sook YOON
Author Information
1. Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. yoonjs@yuhs.ac
- Publication Type:Case Report
- Keywords:
Fibrosis;
orbit;
DNA mutational analysis
- MeSH:
Child, Preschool;
DNA Mutational Analysis;
Exome;
Female;
Fibrosis*;
Genome, Mitochondrial*;
Humans;
Molecular Biology*;
Orbit*
- From:Yonsei Medical Journal
2017;58(5):1078-1080
- CountryRepublic of Korea
- Language:English
-
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.
