CHOPS Syndrome Found, Tied to Key Events in Early Development:
Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it.
“This syndrome illuminates a very important pathway in early human development — a sort of master switch that controls many other genes,” said study leader Ian D. Krantz, MD, co-director of the Roberts Individualized Medical Genetics Center at Children’s Hospital of Philadelphia (CHOP). Krantz, a medical geneticist, is an attending physician in CHOP’s comprehensive human genetics program...
https://www.chop.edu/news/chops-syndrome-found-tied-key-events-early-development
Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it.
“This syndrome illuminates a very important pathway in early human development — a sort of master switch that controls many other genes,” said study leader Ian D. Krantz, MD, co-director of the Roberts Individualized Medical Genetics Center at Children’s Hospital of Philadelphia (CHOP). Krantz, a medical geneticist, is an attending physician in CHOP’s comprehensive human genetics program...
https://www.chop.edu/news/chops-syndrome-found-tied-key-events-early-development
New genetic syndrome found, arising from errors in 'master switch' during early development:
https://www.sciencedaily.com/releases/2015/03/150302121611.htm
Families from across the Globe Gather for CHOPS Syndrome Symposium:
https://www.chop.edu/news/families-across-globe-gather-chops-syndrome-symposium
National Institute of Health: NIH
www.rarediseases.info.nih.gov/diseases/12845/chops-syndrome
https://www.chop.edu/news/families-across-globe-gather-chops-syndrome-symposium
National Institute of Health: NIH
www.rarediseases.info.nih.gov/diseases/12845/chops-syndrome