A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

  • David B. Beck
  • , Megan T. Cho
  • , Francisca Millan
  • , Carin Yates
  • , Mark Hannibal
  • , Bridget O’Connor
  • , Marwan Shinawi
  • , Anne M. Connolly
  • , Darrel Waggoner
  • , Sara Halbach
  • , Brad Angle
  • , Victoria Sanders
  • , Yufeng Shen
  • , Kyle Retterer
  • , Amber Begtrup
  • , Renkui Bai
  • , Wendy K. Chung

Research output: Contribution to journalArticlepeer-review

33 Scopus citations

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Biochemistry, Genetics and Molecular Biology