Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.
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ABSTRACT:
SUBMITTER: Ko J
PROVIDER: S-EPMC5552640 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Publications
Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.
Ko JaeSang J Lee Hyun Joo HJ Lee Jin Sung JS Yoon Jin Sook JS
Yonsei medical journal 20170901 5
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. ...[more]
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