A study identifies novel disease-causing variants in the TCOF1 and POLR1D genes associated with Treacher Collins Syndrome in a South African cohort. This research enhances the understanding of the genetic basis of this rare condition.
molecular characterisation of treacher collins syndrome in a south african cohort novel disease causing variants in tcof1 and polr1d
Original title: “Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.”