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

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.

SUBMITTER: Ko J 

PROVIDER: S-EPMC5552640 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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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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