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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.author남궁란-
dc.contributor.author박국인-
dc.contributor.author박민수-
dc.contributor.author신정은-
dc.contributor.author은호선-
dc.contributor.author이진성-
dc.contributor.author이현주-
dc.contributor.author한정호-
dc.date.accessioned2019-07-11T03:13:26Z-
dc.date.available2019-07-11T03:13:26Z-
dc.date.issued2019-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/169881-
dc.description.abstractGenitopatellar 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.statementOfResponsibilityopen-
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.MESHCraniofacial Abnormalities/diagnosis-
dc.subject.MESHCraniofacial Abnormalities/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHHistone Acetyltransferases/genetics*-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHIntellectual Disability/diagnosis-
dc.subject.MESHIntellectual Disability/genetics*-
dc.subject.MESHKidney/abnormalities*-
dc.subject.MESHMusculoskeletal Abnormalities/genetics*-
dc.subject.MESHMutation/genetics*-
dc.subject.MESHPatella/abnormalities*-
dc.subject.MESHPsychomotor Disorders/diagnosis-
dc.subject.MESHPsychomotor Disorders/genetics*-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHScrotum/abnormalities*-
dc.subject.MESHUrogenital Abnormalities/diagnosis-
dc.subject.MESHUrogenital Abnormalities/genetics*-
dc.subject.MESHWhole Exome Sequencing/methods*-
dc.titleGenitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아청소년과학교실)-
dc.contributor.googleauthorByuh Ree Kim-
dc.contributor.googleauthorJeong Ho Han-
dc.contributor.googleauthorJeong Eun Shin-
dc.contributor.googleauthorMin Soo Park-
dc.contributor.googleauthorKook In Park-
dc.contributor.googleauthorRan Namgung-
dc.contributor.googleauthorHyun-Joo Lee-
dc.contributor.googleauthorJin-Sung Lee-
dc.contributor.googleauthorHo Sun Eun-
dc.identifier.doi10.3349/ymj.2019.60.4.395-
dc.contributor.localIdA01241-
dc.contributor.localIdA01438-
dc.contributor.localIdA01468-
dc.contributor.localIdA02152-
dc.contributor.localIdA02635-
dc.contributor.localIdA03227-
dc.contributor.localIdA04645-
dc.contributor.localIdA05064-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid30900427-
dc.subject.keywordGenitopatellar syndrome-
dc.subject.keywordKAT6B gene-
dc.contributor.alternativeNameNamgung, Ran-
dc.contributor.affiliatedAuthor남궁란-
dc.contributor.affiliatedAuthor박국인-
dc.contributor.affiliatedAuthor박민수-
dc.contributor.affiliatedAuthor신정은-
dc.contributor.affiliatedAuthor은호선-
dc.contributor.affiliatedAuthor이진성-
dc.contributor.affiliatedAuthor이현주-
dc.contributor.affiliatedAuthor한정호-
dc.citation.volume60-
dc.citation.number4-
dc.citation.startPage395-
dc.citation.endPage398-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.60(4) : 395-398, 2019-
dc.identifier.rimsid62403-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
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