Skip to Main Content

Paper Details

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Am J Hum Genet
52
2017
7 bp duplication, ACTG2, LMOD1, MMIHS, MYH11, MYLK, Megacystis microcolon intestinal hypoperistalsis syndrome, Mylk, Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome, abnormal function of the bladder, actin filaments, c, c.3838_3844dupGAAAGCG, c.3985+, congenital disorder, gut dysmotility, loss of smooth muscle contraction, mouse, myosin, myosin light chain kinase, p, smooth muscle cells
Author NameAffiliation
Michael F WanglerBaylor College of Medicine, USA Texas Childen's Hospital
Arthur L BeaudetBaylor College of Medicine, USA Texas Childen's Hospital
James R LupskiBaylor College of Medicine, USA Texas Childen's Hospital, USA Baylor-Hopkins Center for Mendelian Genomics
James R LupskiBaylor College of Medicine, USA Texas Childen's Hospital, USA Baylor-Hopkins Center for Mendelian Genomics
Zeynep Coban AkdemirBaylor College of Medicine, USA Baylor-Hopkins Center for Mendelian Genomics
  • 1 - 5

Datasets

Release 1.2