Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
American Journal Of Human Genetics
Davidson, Alice E AE; Liskova, Petra P; Evans, Cerys J CJ; Dudakova, Lubica L; Nosková, Lenka L; Pontikos, Nikolas N; Hartmannová, Hana H; Hodaňová, Kateřina K; Stránecký, Viktor V; Kozmík, Zbyněk Z; Levis, Hannah J HJ; Idigo, Nwamaka N; Sasai, Noriaki N; Maher, Geoffrey J GJ; Bellingham, James J; Veli, Neyme N; Ebenezer, Neil D ND; Cheetham, Michael E ME; Daniels, Julie T JT; Thaung, Caroline M H CM; Jirsova, Katerina K; Plagnol, Vincent V; Filipec, Martin M; Kmoch, Stanislav S; Tuft, Stephen J SJ; Hardcastle, Alison J AJ