Rare Gene Mutation Identified as Cause of Undiagnosed Condition in 30 Patients
Researchers have made a groundbreaking discovery by identifying a rare gene mutation that causes a complex and undiagnosed condition in 30 patients worldwide. The study, published in Genetics in Medicine, provides a genetic diagnosis for individuals with severe developmental disorders, epilepsy, and sensory problems. The breakthrough came when an international team of researchers analyzed the … Read more