A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E - Maass, P G; Wirth, J; Aydin, A; Rump, A; Stricker, S; Tinschert, S; Otero, M; Tsuchimochi, K; Goldring, M B; Luft, F C; Bähring, S (Hum Mol Genet, 2010)