Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. by Robertson, S, Twigg, SR, Sutherland-Smith, A, Biancalana, V, Gorlin, R, Horn, D, Kenwrick, S, Kim, C, Morava, E, Newbury-Ecob, R, Orstavik, K, Quarrell, O, Schwartz, C, Shears, D, Suri, M, Kendrick-Jones, J, Wilkie, A

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. by Jenkins, D, Seelow, D, Jehee, F, Perlyn, C, Alonso, L, Bueno, D, Donnai, D, Josifova, D, Josifiova, D, Mathijssen, I, Morton, J, Orstavik, K, Sweeney, E, Wall, SA, Marsh, J, Nurnberg, P, Passos-Bueno, MR, Wilkie, A