Similarities unite three distinct gene mutations of Treacher Collins Syndrome
Scientists at the Stowers Institute for Medical Research have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial development disorder that affects an estimated 1 in 50,000 live births. Collectively the results of the study reveal that a unifying cellular and biochemical […]
