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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science 2014
Θέματα:
Research Article
Διαθέσιμο Online: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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