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Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 남궁란 | - |
dc.contributor.author | 박국인 | - |
dc.contributor.author | 박민수 | - |
dc.contributor.author | 신정은 | - |
dc.contributor.author | 은호선 | - |
dc.contributor.author | 이진성 | - |
dc.contributor.author | 이현주 | - |
dc.contributor.author | 한정호 | - |
dc.date.accessioned | 2019-07-11T03:13:26Z | - |
dc.date.available | 2019-07-11T03:13:26Z | - |
dc.date.issued | 2019 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/169881 | - |
dc.description.abstract | Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Yonsei University | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Craniofacial Abnormalities/diagnosis | - |
dc.subject.MESH | Craniofacial Abnormalities/genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Histone Acetyltransferases/genetics* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Infant | - |
dc.subject.MESH | Intellectual Disability/diagnosis | - |
dc.subject.MESH | Intellectual Disability/genetics* | - |
dc.subject.MESH | Kidney/abnormalities* | - |
dc.subject.MESH | Musculoskeletal Abnormalities/genetics* | - |
dc.subject.MESH | Mutation/genetics* | - |
dc.subject.MESH | Patella/abnormalities* | - |
dc.subject.MESH | Psychomotor Disorders/diagnosis | - |
dc.subject.MESH | Psychomotor Disorders/genetics* | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Scrotum/abnormalities* | - |
dc.subject.MESH | Urogenital Abnormalities/diagnosis | - |
dc.subject.MESH | Urogenital Abnormalities/genetics* | - |
dc.subject.MESH | Whole Exome Sequencing/methods* | - |
dc.title | Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아청소년과학교실) | - |
dc.contributor.googleauthor | Byuh Ree Kim | - |
dc.contributor.googleauthor | Jeong Ho Han | - |
dc.contributor.googleauthor | Jeong Eun Shin | - |
dc.contributor.googleauthor | Min Soo Park | - |
dc.contributor.googleauthor | Kook In Park | - |
dc.contributor.googleauthor | Ran Namgung | - |
dc.contributor.googleauthor | Hyun-Joo Lee | - |
dc.contributor.googleauthor | Jin-Sung Lee | - |
dc.contributor.googleauthor | Ho Sun Eun | - |
dc.identifier.doi | 10.3349/ymj.2019.60.4.395 | - |
dc.contributor.localId | A01241 | - |
dc.contributor.localId | A01438 | - |
dc.contributor.localId | A01468 | - |
dc.contributor.localId | A02152 | - |
dc.contributor.localId | A02635 | - |
dc.contributor.localId | A03227 | - |
dc.contributor.localId | A04645 | - |
dc.contributor.localId | A05064 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 30900427 | - |
dc.subject.keyword | Genitopatellar syndrome | - |
dc.subject.keyword | KAT6B gene | - |
dc.contributor.alternativeName | Namgung, Ran | - |
dc.contributor.affiliatedAuthor | 남궁란 | - |
dc.contributor.affiliatedAuthor | 박국인 | - |
dc.contributor.affiliatedAuthor | 박민수 | - |
dc.contributor.affiliatedAuthor | 신정은 | - |
dc.contributor.affiliatedAuthor | 은호선 | - |
dc.contributor.affiliatedAuthor | 이진성 | - |
dc.contributor.affiliatedAuthor | 이현주 | - |
dc.contributor.affiliatedAuthor | 한정호 | - |
dc.citation.volume | 60 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 395 | - |
dc.citation.endPage | 398 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.60(4) : 395-398, 2019 | - |
dc.identifier.rimsid | 62403 | - |
dc.type.rims | ART | - |
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