Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene
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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | K H Sung | - |
| dc.contributor.author | Sang Heon Lee | - |
| dc.contributor.author | Namshin Kim | - |
| dc.contributor.author | T J Cho | - |
| dc.date.accessioned | 2017-04-19T10:05:04Z | - |
| dc.date.available | 2017-04-19T10:05:04Z | - |
| dc.date.issued | 2015 | - |
| dc.identifier.issn | 1060-152X | - |
| dc.identifier.uri | 10.1097/BPB.0000000000000119 | ko |
| dc.identifier.uri | https://oak.kribb.re.kr/handle/201005/12610 | - |
| dc.description.abstract | Escobar syndrome is a nonlethal subtype of multiple pterygium syndromes, characterized by webbing across the joints, congenital joint contracture, facial dysmorphism and a variety of other congenital anomalies. We report orthopaedic manifestation and the treatment outcome of two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene. | - |
| dc.publisher | Kluwer | - |
| dc.title | Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene | - |
| dc.title.alternative | Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene | - |
| dc.type | Article | - |
| dc.citation.title | Journal of Pediatric Orthopaedics-Part B | - |
| dc.citation.number | 3 | - |
| dc.citation.endPage | 267 | - |
| dc.citation.startPage | 262 | - |
| dc.citation.volume | 24 | - |
| dc.contributor.affiliatedAuthor | Sang Heon Lee | - |
| dc.contributor.affiliatedAuthor | Namshin Kim | - |
| dc.contributor.alternativeName | 성기혁 | - |
| dc.contributor.alternativeName | 이상헌 | - |
| dc.contributor.alternativeName | 김남신 | - |
| dc.contributor.alternativeName | 조태준 | - |
| dc.identifier.bibliographicCitation | Journal of Pediatric Orthopaedics-Part B, vol. 24, no. 3, pp. 262-267 | - |
| dc.identifier.doi | 10.1097/BPB.0000000000000119 | - |
| dc.subject.keyword | CHRNG gene | - |
| dc.subject.keyword | Escobar syndrome | - |
| dc.subject.keyword | Multiple pterygium syndrome | - |
| dc.subject.keyword | Treatment outcome | - |
| dc.subject.local | CHRNG gene | - |
| dc.subject.local | Escobar syndrome | - |
| dc.subject.local | Multiple pterygium syndrome | - |
| dc.subject.local | Treatment outcome | - |
| dc.description.journalClass | Y | - |
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