{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1050299771254206848.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"URI","@value":"https://asahikawa-med.repo.nii.ac.jp/records/585"}},{"identifier":{"@type":"NAID","@value":"10014248415"}},{"identifier":{"@type":"URI","@value":"https://search.jamas.or.jp/link/ui/2005166448"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@language":"ja","@value":"【内分泌　興味ある症例】　SOX9遺伝子に新規変異を同定したcampomelic dysplasiaの1例"}],"dc:language":"ja","description":[{"type":"Abstract","notation":[{"@language":"ja","@value":"1歳7ヵ月女児.生後2?3ヵ月頃までは,啼泣などの胸腔内圧上昇時に著明なチアノーゼを呈し,用手換気を必要とした.気管支鏡検査を施行したところ,啼泣時に気管および気管支の扁平化,狭小化を認めた.気管支造影検査でも同様の所見であった.成長とともに用手換気の回数は減少し,生後7ヵ月で人工呼吸器を離脱したが,その後も啼泣時に回復困難なチアノーゼを認めることがあり,緊急時への対応のため,1歳時に気管切開術を施行した.微量酸素送与のみで呼吸状態は安定したため,1歳5ヵ月時に退院し外来で経過観察中である.SOX9遺伝子の解析を行った結果,新規変異(887 ins C/296 ins C)を同定した.この変異によりSOX9蛋白のTA domainがすべて異常蛋白に変異すると予想され,このためSOX9蛋白の転写活性因子としての機能が失われ,本症を発症したと考えられた.本症例は長期生存例になる可能性がある"}]},{"type":"Other","notation":[{"@value":"著者版"}]},{"type":"Other","notation":[{"@value":"text"}]},{"type":"Other","notation":[{"@value":"application/pdf"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1070299771254206850","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000001349759"}],"foaf:name":[{"@language":"ja","@value":"岡本, 年男"},{"@language":"ja-Kana","@value":"オカモト, 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