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 Barsh, Gregory S.

PLoS genetics, 2014-03, Vol.10 (3), p.e1004258-e1004258 [Periódico revisado por pares]

United States: Public Library of Science

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