A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
David B. Beck(Center for Human Genetics), Wendy K. Chung(Columbia University Irving Medical Center), Francisca Millan, Carin Yates, Kyle Retterer(Geisinger Health System), Darrel Waggoner(University of Chicago), Amber Begtrup, Brad Angle(Advocate Children's Hospital), Mark Hannibal, Yufeng Shen(Columbia University Irving Medical Center), Renkui Bai, Megan T. Cho, Anne M. Connolly(Washington University in St. Louis), Sara Halbach(University of Chicago), Marwan Shinawi(St. Louis Children's Hospital), Victoria R. Sanders(Lurie Children's Hospital), Bridget O’Connor(University of Michigan)
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