Targeted gene panel sequencing prenatally detects two novel mutations of <i>DYNC2H1</i> in a fetus with increased biparietal diameter and polyhydramnios

• 資料種別: 記事
• タイトル: Targeted gene panel sequencing prenatally detects two novel mutations of <i>DYNC2H1</i> in a fetus with increased biparietal diameter and polyhydramnios
• 著者標目: Linbei Deng; Sau Wai Cheung; Eric S. Schmitt; Shiyi Xiong; Meizhen Yuan; Zhonghai Chen; Lei Chen; Luming Sun; https://orcid.org/0000-0001-9457-7764
• 出版年月日等: 2018-01-23
• 出版年（W3CDTF）: 2018-01-23
• タイトル（掲載誌）: Birth Defects Research
• 巻号年月日等（掲載誌）: 110 4
• 掲載巻: 110
• 掲載号: 4
• 掲載ページ: 364-371
• 掲載年月日（W3CDTF）: 2018-01-23
• ISSN（掲載誌）: 24721727
• 出版事項（掲載誌）: Wiley
• 件名標目: Health, Toxicology and Mutagenesis; Developmental Biology; Toxicology; Embryology; Pediatrics, Perinatology and Child Health
• 対象利用者: 一般
• DOI: 10.1002/bdr2.1146
• 作成日（W3CDTF）: 2018-01-23
• 著作権情報: http://onlinelibrary.wiley.com/termsAndConditions#vor
• 関連情報（URI）: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fbdr2.1146; https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1146
• 参照: Early prenatal detection of short‐rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy; https://cir.nii.ac.jp/crid/1360566396324304000
• 連携機関・データベース: 国立情報学研究所 : CiNii Research
• 提供元機関・データベース: Crossref; https://www.crossref.org

• 要約等: <jats:sec><jats:title>Background</jats:title><jats:p>Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350...