Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

Petra Seemann, Raphaela Schwappacher, Klaus Wilbrandt Kjær, Deborah Krakow, Katarina Lehmann, Katherine Dawson, Sigmar Stricker, Jens Pohl, Frank Plöger, Eike Staub, Joachim Nickel, Walter Sebald, Petra Knaus, Stefan Mundlos