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

• Material Type: 記事
• Title: Targeted gene panel sequencing prenatally detects two novel mutations of <i>DYNC2H1</i> in a fetus with increased biparietal diameter and polyhydramnios
• Author Heading: 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
• Publication Date: 2018-01-23
• Publication Date (W3CDTF): 2018-01-23
• Periodical title: Birth Defects Research
• No. or year of volume/issue: 110 4
• Volume: 110
• Issue: 4
• Pages: 364-371
• Publication date of volume/issue (W3CDTF): 2018-01-23
• ISSN (Periodical Title): 24721727
• Publication (Periodical Title): Wiley
• Subject Heading: Health, Toxicology and Mutagenesis; Developmental Biology; Toxicology; Embryology; Pediatrics, Perinatology and Child Health
• Target Audience: 一般
• DOI: 10.1002/bdr2.1146
• Date Created (W3CDTF): 2018-01-23
• Rights (production): http://onlinelibrary.wiley.com/termsAndConditions#vor
• Related Material (URI): https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fbdr2.1146; https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1146
• Is Referenced By: Early prenatal detection of short‐rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy; https://cir.nii.ac.jp/crid/1360566396324304000
• Data Provider (Database): 国立情報学研究所 : CiNii Research
• Original Data Provider (Database): Crossref; https://www.crossref.org

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