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Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.

Authors
 JaeSang Ko  ;  Hyun-Joo Lee  ;  Jin-Sung Lee  ;  Jin Sook Yoon 
Citation
 Yonsei Medical Journal, Vol.58(5) : 1078-1080, 2017 
Journal Title
 Yonsei Medical Journal 
ISSN
 0513-5796 
Issue Date
2017
MeSH
Child, Preschool ; DNA Mutational Analysis ; Female ; Fibrosis ; Fundus Oculi ; Genome, Mitochondrial* ; Humans ; Magnetic Resonance Imaging ; Mutation/genetics ; Orbit/pathology* ; Orbital Diseases/congenital* ; Orbital Diseases/genetics* ; Whole Exome Sequencing*
Keywords
DNA mutational analysis ; Fibrosis ; orbit
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.
DOI
10.3349/ymj.2017.58.5.1078
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
고재상(Ko, Jaesang) ORCID logo https://orcid.org/0000-0002-3011-7213
윤진숙(Yoon, Jin Sook) ORCID logo https://orcid.org/0000-0002-8751-9467
이진성(Lee, Jin Sung) ORCID logo https://orcid.org/0000-0002-1262-8597
이현주(Lee, Hyun Joo) ORCID logo https://orcid.org/0000-0002-1432-0449
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160741
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