Novel Genetic Cause for Neurodevelopmental Defects
TMX2 is a Crucial Regulator of Cellular Redox State, and its Dysfunction Causes Severe Brain Developmental Abnormalities
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.