{"title":"在成骨不全患者中发现一种新的COL1A1缺失/插入致病性变异。","authors":"Chieko Yamada, Takuo Kubota, Takeshi Ishimi, Shinji Takeyari, Kenichi Yamamoto, Hirofumi Nakayama, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Keiichi Ozono","doi":"10.1297/cpe.2022-0027","DOIUrl":null,"url":null,"abstract":"Chieko Yamada1, Takuo Kubota1, Takeshi Ishimi1, Shinji Takeyari1, Kenichi Yamamoto1, 2, Hirofumi Nakayama1, Yasuhisa Ohata1, Makoto Fujiwara1, 3, Taichi Kitaoka1, and Keiichi Ozono1 1Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan 2Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan 3The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka, Japan","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4e/67/cpe-31-205.PMC9297176.pdf","citationCount":"0","resultStr":"{\"title\":\"A novel <i>COL1A1</i> deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta.\",\"authors\":\"Chieko Yamada, Takuo Kubota, Takeshi Ishimi, Shinji Takeyari, Kenichi Yamamoto, Hirofumi Nakayama, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Keiichi Ozono\",\"doi\":\"10.1297/cpe.2022-0027\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Chieko Yamada1, Takuo Kubota1, Takeshi Ishimi1, Shinji Takeyari1, Kenichi Yamamoto1, 2, Hirofumi Nakayama1, Yasuhisa Ohata1, Makoto Fujiwara1, 3, Taichi Kitaoka1, and Keiichi Ozono1 1Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan 2Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan 3The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka, Japan\",\"PeriodicalId\":10678,\"journal\":{\"name\":\"Clinical Pediatric Endocrinology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4e/67/cpe-31-205.PMC9297176.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Pediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1297/cpe.2022-0027\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/6/17 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Pediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1297/cpe.2022-0027","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/6/17 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta.
Chieko Yamada1, Takuo Kubota1, Takeshi Ishimi1, Shinji Takeyari1, Kenichi Yamamoto1, 2, Hirofumi Nakayama1, Yasuhisa Ohata1, Makoto Fujiwara1, 3, Taichi Kitaoka1, and Keiichi Ozono1 1Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan 2Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan 3The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka, Japan
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