Medical News Today - "Two Gene Mutations Responsible For Infantile Myofibromatosis Identified"

 – May 27, 2013  –– 

Researchers at Mount Sinai have identified two mutations responsible for the development of infantile myofibromatosis (IM) - a tumor disorder of the skin, bone, and tissue. The finding, published in The American Journal of Human Genetics, is crucial for the development of treatment options for the disease, providing new therapeutic drug targets. John Martignetti, MD, PhD, led a team of researchers at the Icahn School of Medicine at Mount Sinai to perform whole-exome sequencing among 32 people who were diagnosed with IM. The patients came from nine different families. Learn more