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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Yonsei Med J
Päätekijät: Ko, JaeSang, Lee, Hyun-Joo, Lee, Jin-Sung, Yoon, Jin Sook
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Yonsei University College of Medicine 2017
Aiheet:
Linkit: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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