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A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Beck, David B; Cho, Megan T; Millan, Francisca; Yates, Carin; Hannibal, Mark; O'Connor, Bridget; Shinawi, Marwan; Connolly, Anne M; Waggoner, Darrel; Halbach, Sara; Angle, Brad; Sanders, Victoria; Shen, Yufeng; Retterer, Kyle; Begtrup, Amber; Bai, Renkui; Chung, Wendy K.
  • Beck DB; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
  • Cho MT; GeneDx, Gaithersburg, MD, USA.
  • Millan F; GeneDx, Gaithersburg, MD, USA.
  • Yates C; GeneDx, Gaithersburg, MD, USA.
  • Hannibal M; Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism & Genomic Medicine, University of Michigan Medical School, Ann Arbor, MI, USA.
  • O'Connor B; Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism & Genomic Medicine, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Connolly AM; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
  • Waggoner D; Department of Pediatrics, University of Chicago, Chicago, IL, USA.
  • Halbach S; Department of Pediatrics, University of Chicago, Chicago, IL, USA.
  • Angle B; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Sanders V; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Shen Y; Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY, USA.
  • Retterer K; GeneDx, Gaithersburg, MD, USA.
  • Begtrup A; GeneDx, Gaithersburg, MD, USA.
  • Bai R; GeneDx, Gaithersburg, MD, USA.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA. wkc15@columbia.edu.
Neurogenetics ; 17(3): 173-8, 2016 07.
Article en En | MEDLINE | ID: mdl-27094857
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Discapacidades del Desarrollo / Mutación Missense / Esmalte Dental / Proteínas de Unión al ADN / Oxidorreductasas de Alcohol / Hipotonía Muscular Tipo de estudio: Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Discapacidades del Desarrollo / Mutación Missense / Esmalte Dental / Proteínas de Unión al ADN / Oxidorreductasas de Alcohol / Hipotonía Muscular Tipo de estudio: Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article