Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene

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dc.contributor.authorK H Sung-
dc.contributor.authorSang Heon Lee-
dc.contributor.authorNamshin Kim-
dc.contributor.authorT J Cho-
dc.date.accessioned2017-04-19T10:05:04Z-
dc.date.available2017-04-19T10:05:04Z-
dc.date.issued2015-
dc.identifier.issn1060-152X-
dc.identifier.uri10.1097/BPB.0000000000000119ko
dc.identifier.urihttps://oak.kribb.re.kr/handle/201005/12610-
dc.description.abstractEscobar 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.publisherKluwer-
dc.titleOrthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene-
dc.title.alternativeOrthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene-
dc.typeArticle-
dc.citation.titleJournal of Pediatric Orthopaedics-Part B-
dc.citation.number3-
dc.citation.endPage267-
dc.citation.startPage262-
dc.citation.volume24-
dc.contributor.affiliatedAuthorSang Heon Lee-
dc.contributor.affiliatedAuthorNamshin Kim-
dc.contributor.alternativeName성기혁-
dc.contributor.alternativeName이상헌-
dc.contributor.alternativeName김남신-
dc.contributor.alternativeName조태준-
dc.identifier.bibliographicCitationJournal of Pediatric Orthopaedics-Part B, vol. 24, no. 3, pp. 262-267-
dc.identifier.doi10.1097/BPB.0000000000000119-
dc.subject.keywordCHRNG gene-
dc.subject.keywordEscobar syndrome-
dc.subject.keywordMultiple pterygium syndrome-
dc.subject.keywordTreatment outcome-
dc.subject.localCHRNG gene-
dc.subject.localEscobar syndrome-
dc.subject.localMultiple pterygium syndrome-
dc.subject.localTreatment outcome-
dc.description.journalClassY-
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