Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

• Michael F. Wangler,

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America

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• Claudia Gonzaga-Jauregui,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Tomasz Gambin,

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland

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• Samantha Penney,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Timothy Moss,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Atul Chopra,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Frank J. Probst,

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America

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• Fan Xia,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Yaping Yang,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Steven Werlin,

  Affiliation Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America

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• Ieva Eglite,

  Affiliation Children's Clinical University Hospital, Riga, Latvia

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• Liene Kornejeva,

  Affiliation Children's Clinical University Hospital, Riga, Latvia

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• Carlos A. Bacino,

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America

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• Dustin Baldridge,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Jeff Neul,

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America

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• Efrat Lev Lehman,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Austin Larson,

  Affiliation Department of Genetics, Children's Hospital Colorado, Aurora, Colorado

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• Joke Beuten,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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• Donna M. Muzny,

  Affiliation Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America

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• Shalini Jhangiani,

  Affiliation Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America

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• Baylor-Hopkins Center for Mendelian Genomics,
• Richard A. Gibbs,

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America

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• James R. Lupski,

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America

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•  [ ... ],
• Arthur Beaudet

  * E-mail: abeaudet@bcm.edu

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America

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