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PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)
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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Park, Jong Eun | - |
| dc.contributor.author | Lee, Eun Jung | - |
| dc.contributor.author | Ki, Chang-Seok | - |
| dc.contributor.author | Kee, Changwon | - |
| dc.date.accessioned | 2023-09-18T07:18:11Z | - |
| dc.date.available | 2023-09-18T07:18:11Z | - |
| dc.date.created | 2023-07-07 | - |
| dc.date.issued | 2018-05 | - |
| dc.identifier.issn | 2234-3806 | - |
| dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/190964 | - |
| dc.language | 영어 | - |
| dc.language.iso | en | - |
| dc.publisher | KOREAN SOC LABORATORY MEDICINE | - |
| dc.title | PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT) | - |
| dc.type | Article | - |
| dc.contributor.affiliatedAuthor | Park, Jong Eun | - |
| dc.identifier.doi | 10.3343/alm.2018.38.3.283 | - |
| dc.identifier.scopusid | 2-s2.0-85042613196 | - |
| dc.identifier.wosid | 000426033100017 | - |
| dc.identifier.bibliographicCitation | ANNALS OF LABORATORY MEDICINE, v.38, no.3, pp.283 - 286 | - |
| dc.relation.isPartOf | ANNALS OF LABORATORY MEDICINE | - |
| dc.citation.title | ANNALS OF LABORATORY MEDICINE | - |
| dc.citation.volume | 38 | - |
| dc.citation.number | 3 | - |
| dc.citation.startPage | 283 | - |
| dc.citation.endPage | 286 | - |
| dc.type.rims | ART | - |
| dc.type.docType | 정기 학술지(letter(letters to the editor)) | - |
| dc.identifier.kciid | ART002343979 | - |
| dc.description.journalClass | 1 | - |
| dc.description.isOpenAccess | Y | - |
| dc.description.journalRegisteredClass | scie | - |
| dc.description.journalRegisteredClass | scopus | - |
| dc.description.journalRegisteredClass | kci | - |
| dc.relation.journalResearchArea | Medical Laboratory Technology | - |
| dc.relation.journalWebOfScienceCategory | Medical Laboratory Technology | - |
| dc.subject.keywordPlus | abnormalities | - |
| dc.subject.keywordPlus | anterior eye segment | - |
| dc.subject.keywordPlus | case report | - |
| dc.subject.keywordPlus | dna mutational analysis | - |
| dc.subject.keywordPlus | eye disease | - |
| dc.subject.keywordPlus | eye malformation | - |
| dc.subject.keywordPlus | female | - |
| dc.subject.keywordPlus | gene deletion | - |
| dc.subject.keywordPlus | genetics | - |
| dc.subject.keywordPlus | human | - |
| dc.subject.keywordPlus | middle aged | - |
| dc.subject.keywordPlus | nucleotide sequence | - |
| dc.subject.keywordPlus | pedigree | - |
| dc.subject.keywordPlus | South Korea | - |
| dc.subject.keywordPlus | young adult | - |
| dc.identifier.url | https://www.annlabmed.org/journal/view.html?doi=10.3343/alm.2018.38.3.283 | - |
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Related Researcher
- Park, Jong Eun
- COLLEGE OF MEDICINE (DEPARTMENT OF LABORATORY MEDICINE)