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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Wangler, Michael F; Gonzaga-Jauregui, Claudia; Gambin, Tomasz; Penney, Samantha; Moss, Timothy; Chopra, Atul; Probst, Frank J; Xia, Fan; Yang, Yaping; Werlin, Steven; Eglite, Ieva; Kornejeva, Liene; Bacino, Carlos A; Baldridge, Dustin; Neul, Jeff; Lehman, Efrat Lev; Larson, Austin; Beuten, Joke; Muzny, Donna M; Jhangiani, Shalini; Gibbs, Richard A; Lupski, James R; Beaudet, Arthur.
Afiliación
  • Wangler MF; 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.
  • Gonzaga-Jauregui C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Gambin T; 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.
  • Penney S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Moss T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Chopra A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Probst FJ; 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.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Werlin S; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.
  • Eglite I; Children's Clinical University Hospital, Riga, Latvia.
  • Kornejeva L; Children's Clinical University Hospital, Riga, Latvia.
  • Bacino CA; 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.
  • Baldridge D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Neul J; 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.
  • Lehman EL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Larson A; Department of Genetics, Children's Hospital Colorado, Aurora, Colorado.
  • Beuten J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.
  • Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America.
  • Gibbs RA; 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.
  • Lupski JR; 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.
  • Beaudet A; 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.
PLoS Genet ; 10(3): e1004258, 2014 Mar.
Article en En | MEDLINE | ID: mdl-24676022
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Vejiga Urinaria / Seudoobstrucción Intestinal / Actinas / Colon / Heterocigoto / Mutación Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Vejiga Urinaria / Seudoobstrucción Intestinal / Actinas / Colon / Heterocigoto / Mutación Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos