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The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
DC Field | Value | Language |
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dc.contributor.author | 박희완 | - |
dc.contributor.author | 윤춘식 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2015-04-24T16:45:50Z | - |
dc.date.available | 2015-04-24T16:45:50Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 1011-8934 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/104126 | - |
dc.description.abstract | Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 737~740 | - |
dc.relation.isPartOf | JOURNAL OF KOREAN MEDICAL SCIENCE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Amino Acid Substitution | - |
dc.subject.MESH | Camurati-Engelmann Syndrome/diagnosis* | - |
dc.subject.MESH | Camurati-Engelmann Syndrome/diagnostic imaging | - |
dc.subject.MESH | DNA Mutational Analysis | - |
dc.subject.MESH | Diaphyses/diagnostic imaging | - |
dc.subject.MESH | Heterozygote | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Muscle Weakness/diagnostic imaging | - |
dc.subject.MESH | Pedigree | - |
dc.subject.MESH | Radiography | - |
dc.subject.MESH | Transforming Growth Factor beta1/genetics* | - |
dc.title | The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Radiology (영상의학) | - |
dc.contributor.googleauthor | Seo-Jin Park | - |
dc.contributor.googleauthor | Choon Sik Yoon | - |
dc.contributor.googleauthor | Hui-Wan Park | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Jong Shin Chung | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.identifier.doi | 10.3346/jkms.2009.24.4.737 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01777 | - |
dc.contributor.localId | A02615 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J01517 | - |
dc.identifier.eissn | 1598-6357 | - |
dc.identifier.pmid | 19654961 | - |
dc.subject.keyword | Camurati-Engelmann Syndrome | - |
dc.subject.keyword | Mutation Analysis | - |
dc.subject.keyword | Skeletal Dysplasia | - |
dc.subject.keyword | Transforming Growth Factor β1 Gene | - |
dc.contributor.alternativeName | Park, Hui Wan | - |
dc.contributor.alternativeName | Yoon, Choon Sik | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Park, Hui Wan | - |
dc.contributor.affiliatedAuthor | Yoon, Choon Sik | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.citation.volume | 24 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 737 | - |
dc.citation.endPage | 740 | - |
dc.identifier.bibliographicCitation | JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.24(4) : 737-740, 2009 | - |
dc.identifier.rimsid | 54565 | - |
dc.type.rims | ART | - |
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