Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
Yonsei Medical Journal
;
: 1078-1080, 2017.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Órbita
/
Fibrose
/
Análise Mutacional de DNA
/
Genoma Mitocondrial
/
Exoma
/
Biologia Molecular
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2017
Tipo de documento:
Artigo
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