FIGURE 1
FROM:
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
Özge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan-Kirchner, Eric Haan, Monika Hagedorn-Greiwe, Christof Hammans, Wolfram Henn, Georg Klaus Hinkel, Rainer König, Erdmute Kunstmann, Jürgen Kunze, Luitgard M Neumann, Eva-Christina Prott, Anita Rauch, Hans-Dieter Rott, Heide Seidel, Stephanie Spranger, Martin Sprengel, Barbara Zoll, Dietmar R Lohmann and Dagmar Wieczorek
BACK TO ARTICLEFigure 1.
TCOF1 gene with newly identified and previously reported mutations. The exons are scaled according to their size, introns are not scaled. (a) TCOF1 gene with nonsense and frameshift mutations (arrowhead at the bottom: nonsense mutations; arrowhead at the top: frameshift mutations; black: newly identified mutations; gray: previously described mutations.11, 12, 13, 14, 15, 16, 17 (b) TCOF1 gene with splice and missense mutations (arrowhead at the bottom: splice mutations; arrowhead at the top: missense mutations; black: newly identified mutations; gray: previously described mutations.11, 12, 13, 14, 15, 16, 17
