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

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 mutation...

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Detalhes bibliográficos
Publicado no:Yonsei Med J
Main Authors: Ko, JaeSang, Lee, Hyun-Joo, Lee, Jin-Sung, Yoon, Jin Sook
Formato: Artigo
Idioma:Inglês
Publicado em: Yonsei University College of Medicine 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5552640/
https://ncbi.nlm.nih.gov/pubmed/28792159
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2017.58.5.1078
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