Phenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndrome

Sah, H.Sanlidag, B.Manara, E.Terali, K.Paolacci, S.Mocan, G.Temel, Şehime GülsünDirik, E.Bertelli, M.Ergören, M. C.2024-07-262024-07-262018-07-012211-5463https://hdl.handle.net/11452/43459eninfo:eu-repo/semantics/closedAccessScience & technologyLife sciences & biomedicineBiochemistry & molecular biologyPhenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndromeMeeting Abstract1431438