Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
Yonsei Medical Journal
;
: 1078-1080, 2017.
Article
in English
| WPRIM
| ID: wpr-87976
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Orbit
/
Fibrosis
/
DNA Mutational Analysis
/
Genome, Mitochondrial
/
Exome
/
Molecular Biology
Limits:
Child, preschool
/
Female
/
Humans
Language:
English
Journal:
Yonsei Medical Journal
Year:
2017
Type:
Article
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