Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

• Material Type: 博士論文
• Title: Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
• Author/Editor: 清水, 日智
• Author Heading: 清水, 日智
• Publication, Distribution, etc.: Springer Nature
• Publication Date: 2020-03-19
• Publication Date (W3CDTF): 2020-03-19
• Alternative Title: RFLNA遺伝子のフレームシフト変異をホモ接合性に認めた典型的な脊椎手根骨足根骨癒合症の一例
• Periodical title: Journal of Human Genetics
• No. or year of volume/issue: 64 5
• Volume: 64
• Issue: 5
• Pages: 467-471
• ISSN (Periodical Title): ISSN : 14345161; ISSN : 1435232X
• Degree grantor/type: Nagasaki University (長崎大学)
• Date Granted: 2020-03-19
• Dissertation Number: 甲医歯薬第1200号
• Degree Type: 博士(医学)
• Text Language Code: eng
• Target Audience: 一般
• Note (General): 長崎大学学位論文 学位記番号:博(医歯薬)甲第1200号 学位授与年月日:令和2年3月19日; Author: Hitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, Hiroyuki Mishima, Gen Nishimura, Hiroyuki Moriuchi, Koh-ichiro Yoshiura & Sumito Dateki; Citation: Journal of Human Genetics, 64(5), pp.467-471, 2019; Nagasaki University (長崎大学), 博士(医学) (2020-03-19)
• Format (IMT): application/pdf
• Source: ISYK1200_Shimizu.pdf （fulltext）; https://nagasaki-u.repo.nii.ac.jp/record/542/files/ISYK1200_Shimizu.pdf
• Access Restrictions: インターネット公開
• Rights (production): c 2019, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
• Related Material (URI): HDL; http://hdl.handle.net/10069/39709
• Related Material (DOI): 10.1038/s10038-019-0581-9
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 長崎大学 : 長崎大学学術研究成果リポジトリ

• Summary, etc.: Spondylocarpotarsal synostosis syndrome, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, s...