Cited 13 times in
PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김미리 | - |
dc.contributor.author | 김희정 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 이민걸 | - |
dc.date.accessioned | 2014-12-20T17:46:11Z | - |
dc.date.available | 2014-12-20T17:46:11Z | - |
dc.date.issued | 2011 | - |
dc.identifier.issn | 1013-9087 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/95217 | - |
dc.description.abstract | LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertrophic cardiomyopathy and/or café-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 232~235 | - |
dc.relation.isPartOf | ANNALS OF DERMATOLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Jihyun Kim | - |
dc.contributor.googleauthor | Mi Ri Kim | - |
dc.contributor.googleauthor | Hee Jung Kim | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Min-Geol Lee | - |
dc.identifier.doi | 10.5021/ad.2011.23.2.232 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00442 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A02779 | - |
dc.contributor.localId | A01218 | - |
dc.relation.journalcode | J00158 | - |
dc.identifier.eissn | 2005-3894 | - |
dc.identifier.pmid | 21747628 | - |
dc.subject.keyword | LEOPARD syndrome | - |
dc.subject.keyword | Multiple lentigines | - |
dc.subject.keyword | PTPN11 gene | - |
dc.contributor.alternativeName | Kim, Miri | - |
dc.contributor.alternativeName | Kim, Hee Jung | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Lee, Min Geol | - |
dc.contributor.affiliatedAuthor | Kim, Miri | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Lee, Min Geol | - |
dc.contributor.affiliatedAuthor | Kim, Hee Jung | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 23 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 232 | - |
dc.citation.endPage | 235 | - |
dc.identifier.bibliographicCitation | ANNALS OF DERMATOLOGY, Vol.23(2) : 232-235, 2011 | - |
dc.identifier.rimsid | 28183 | - |
dc.type.rims | ART | - |
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