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

Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing. Yonsei Med J. 2017 Sep;58(5):1078-1080 Authors: Ko J, Lee HJ, Lee JS, Yoon JS 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. PMID: 28792159 [PubMed - in process]
Source: Yonsei Medical Journal - Category: Universities & Medical Training Authors: Tags: Yonsei Med J Source Type: research