Goldberg-Shprintzen syndrome
Encyclopedia
Goldberg-Shprintzen is a condition associated with mutations in KIAA1279
gene.
Hirschsprung's disease
may be part of the presentation.
KIAA1279
KIF1-binding protein is a protein that in humans is encoded by the KIAA1279 gene.- Clinical significance :Defects may be associated with Goldberg-Shprintzen syndrome .-Interactions:...
gene.
Hirschsprung's disease
Hirschsprung's disease
Hirschsprung's disease , or congenital aganglionic megacolon is a serious medical problem where the enteric nervous system is missing from the end of the bowel. The enteric nervous system is a complex network of neurons and glia that controls most aspects of intestinal function...
may be part of the presentation.