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A female patient with Xp21 gene deletion syndrome
DC Field | Value | Language |
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dc.contributor.author | 나지훈 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이현주 | - |
dc.date.accessioned | 2022-02-23T01:13:48Z | - |
dc.date.available | 2022-02-23T01:13:48Z | - |
dc.date.issued | 2021-12 | - |
dc.identifier.issn | 1226-1769 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/187591 | - |
dc.description.abstract | Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한의학유전학회 | - |
dc.relation.isPartOf | Journal of Genetic Medicine(대한의학유전학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | A female patient with Xp21 gene deletion syndrome | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | Jungeun Kim | - |
dc.contributor.googleauthor | Hyunjoo Lee | - |
dc.contributor.googleauthor | Ji-Hoon Na | - |
dc.contributor.googleauthor | Young-Mock Lee | - |
dc.identifier.doi | 10.5734/JGM.2021.18.2.101 | - |
dc.contributor.localId | A05215 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A04645 | - |
dc.relation.journalcode | J01422 | - |
dc.identifier.eissn | 2233-9108 | - |
dc.subject.keyword | Xp21 contiguous gene deletion syndrome | - |
dc.subject.keyword | Duchenne muscular dystrophy | - |
dc.subject.keyword | Creatine kinase | - |
dc.contributor.alternativeName | Na, Ji Hoon | - |
dc.contributor.affiliatedAuthor | 나지훈 | - |
dc.contributor.affiliatedAuthor | 이영목 | - |
dc.contributor.affiliatedAuthor | 이현주 | - |
dc.citation.volume | 18 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 101 | - |
dc.citation.endPage | 104 | - |
dc.identifier.bibliographicCitation | Journal of Genetic Medicine (대한의학유전학회지), Vol.18(2) : 101-104, 2021-12 | - |
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