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Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Buchh, Muqsit; Gillespie, Patrick J; Treat, Kayla; Abreu, Marco A; Schwantes-An, Tae-Hwi Linus; Helm, Benjamin M; Fang, Fang; Xuei, Xiaoling; Mantcheva, Lili; Suhrie, Kristen R; Graham, Brett H; Conboy, Erin; Vetrini, Francesco.
Affiliation
  • Buchh M; Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Gillespie PJ; Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Treat K; Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Abreu MA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Schwantes-An TL; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine. Indianapolis, Indiana 46202, USA.
  • Helm BM; Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Fang F; Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Xuei X; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Mantcheva L; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine. Indianapolis, Indiana 46202, USA.
  • Suhrie KR; Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Conboy E; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine. Indianapolis, Indiana 46202, USA.
  • Vetrini F; Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Cold Spring Harb Mol Case Stud ; 8(7)2022 12.
Article in En | MEDLINE | ID: mdl-36442996
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Full text: 1 Database: MEDLINE Main subject: Short Rib-Polydactyly Syndrome / Polydactyly Limits: Female / Humans / Newborn / Pregnancy Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2022 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Short Rib-Polydactyly Syndrome / Polydactyly Limits: Female / Humans / Newborn / Pregnancy Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2022 Type: Article Affiliation country: United States