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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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
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2014
Fag:
Research Article
Online adgang: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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