首页> PLoS genetics> Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

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第一作者： Michael F,Wangler

第一单位： 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.

作者： Michael F,Wangler ^[1] ; Claudia,Gonzaga-Jauregui ^[2] ; Tomasz,Gambin ^[3] ; Samantha,Penney ^[2] ; Timothy,Moss ^[2] ; Atul,Chopra ^[2] ; Frank J,Probst ^[1] ; Fan,Xia ^[2] ; Yaping,Yang ^[2] ; Steven,Werlin ^[4] ; Ieva,Eglite ^[5] ; Liene,Kornejeva ^[5] ; Carlos A,Bacino ^[1] ; Dustin,Baldridge ^[2] ; Jeff,Neul ^[6] ; Efrat Lev,Lehman ^[2] ; Austin,Larson ^[7] ; Joke,Beuten ^[2] ; Donna M,Muzny ^[8] ; Shalini,Jhangiani ^[8] ; Baylor-Hopkins Center for Mendelian Genomics ^[9] ; Richard A,Gibbs ^[1] ; James R,Lupski ^[1] ; Arthur,Beaudet

作者单位： 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. ^[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America. ^[2] 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. ^[3] Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America. ^[4] Children's Clinical University Hospital, Riga, Latvia. ^[5] 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. ^[6] Department of Genetics, Children's Hospital Colorado, Aurora, Colorado. ^[7] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America. ^[8] 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. ^[9]