A cross-disciplinary team of researchers and physicians from Washington University School of Medicine in St. Louis and colleagues from around the world has solved the mystery of a child with a rare genetic illness that did not fit any known disease. The team found a link between the child’s neurological symptoms and a genetic change that affects how proteins are properly folded within cells, providing the parents with a molecular diagnosis and identifying an entirely new type of genetic disorder.
Researchers solve medical mystery of neurological symptoms in kids (Links to an external site)
