High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case. Issue 11 (19th November 2003) - Kohlhase, J; Liebers, M; Backe, J; Baumann-Müller, A; Bembea, M; Destrée, A; Gattas, M; Grüßner, S; Müller, T; Mortier, G; Skrypnyk, C; Yano, S; et al.