A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. Recent studies indicate that heterozygous variants in ACTG2, which codes for a smooth muscle actin, cause MMIHS. However, such v...

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Detalles Bibliográficos
Autores principales: Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538215/
https://www.ncbi.nlm.nih.gov/pubmed/25407000
http://dx.doi.org/10.1038/ejhg.2014.256

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