Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
Yonsei Medical Journal
;
: 1078-1080, 2017.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Órbita
/
Fibrosis
/
Análisis Mutacional de ADN
/
Genoma Mitocondrial
/
Exoma
/
Biología Molecular
Límite:
Child, preschool
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Yonsei Medical Journal
Año:
2017
Tipo del documento:
Artículo
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