Concepedia

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

Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F. Hamdan, Steven M. Harrison, Linda A. Baker, Françoise Couture, Isabelle Thiffault, Réda Ouazzani, Mark E. Samuels, Grant A. Mitchell,

European Journal of Human Genetics · 2014 · 102 citations · 9 references

DOI

Concepts

References

9

Three-dimensional structure of myosin subfragment-1: a molecular motor

Ivan Rayment, W. Rypniewski, Karen Schmidt‐Bäse et al. · Science · 1993 · 2.1K citations

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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Li‐Min Zhu, Roger Vranckx, Philippe Khau Van Kien et al. · Nature Genetics · 2006 · 614 citations

, , +14

Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls

W E Berdon, DH Baker, WA Blanc et al. · American Journal of Roentgenology · 1976 · 275 citations

, , +14

De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Dianna M. Milewicz, John R. Østergaard, Leena Ala‐Kokko et al. · American Journal of Medical Genetics Part A · 2010 · 269 citations

, , +13

Smooth-muscle contraction without smooth-muscle myosin

Ingo Morano, Gui-Xuan Chai, Leonidas G. Baltas et al. · Nature Cell Biology · 2000 · 165 citations

, , +10