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

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has rema...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3967950/
https://ncbi.nlm.nih.gov/pubmed/24676022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004258
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