Condition: Abnormality of the bladder
rs777696417
in
LMOD1
gene and
Abnormality of the bladder
PMID 28292896
2017 Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
rs1553787823
in
MYLK
gene and
Abnormality of the bladder
PMID 28602422
2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.