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

DC Field Value Language
dc.contributor.author고재상-
dc.contributor.author윤진숙-
dc.contributor.author이진성-
dc.contributor.author이현주-
dc.date.accessioned2018-07-20T07:59:45Z-
dc.date.available2018-07-20T07:59:45Z-
dc.date.issued2017-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/160741-
dc.description.abstractA 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.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageEnglish-
dc.publisherYonsei University-
dc.relation.isPartOfYONSEI MEDICAL JOURNAL-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHChild, Preschool-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHFemale-
dc.subject.MESHFibrosis-
dc.subject.MESHFundus Oculi-
dc.subject.MESHGenome, Mitochondrial*-
dc.subject.MESHHumans-
dc.subject.MESHMagnetic Resonance Imaging-
dc.subject.MESHMutation/genetics-
dc.subject.MESHOrbit/pathology*-
dc.subject.MESHOrbital Diseases/congenital*-
dc.subject.MESHOrbital Diseases/genetics*-
dc.subject.MESHWhole Exome Sequencing*-
dc.titleCongenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Ophthalmology-
dc.contributor.googleauthorJaeSang Ko-
dc.contributor.googleauthorHyun-Joo Lee-
dc.contributor.googleauthorJin-Sung Lee-
dc.contributor.googleauthorJin Sook Yoon-
dc.identifier.doi10.3349/ymj.2017.58.5.1078-
dc.contributor.localIdA04876-
dc.contributor.localIdA02611-
dc.contributor.localIdA03227-
dc.contributor.localIdA04645-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid28792159-
dc.subject.keywordDNA mutational analysis-
dc.subject.keywordFibrosis-
dc.subject.keywordorbit-
dc.contributor.alternativeNameKo, Jaesang-
dc.contributor.alternativeNameYoon, Jin Sook-
dc.contributor.alternativeNameLee, Jin Sung-
dc.contributor.alternativeNameLee, Hyun Joo-
dc.contributor.affiliatedAuthorKo, Jaesang-
dc.contributor.affiliatedAuthorYoon, Jin Sook-
dc.contributor.affiliatedAuthorLee, Jin Sung-
dc.contributor.affiliatedAuthorLee, Hyun Joo-
dc.contributor.affiliatedAuthor이현주-
dc.citation.volume58-
dc.citation.number5-
dc.citation.startPage1078-
dc.citation.endPage1080-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.58(5) : 1078-1080, 2017-
dc.identifier.rimsid43243-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
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