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

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

PLoS Genetics, 01 March 2014, Vol.10(3), p.e1004258 [Periódico revisado por pares]

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