Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences by Haque Sayedul, Phadke Shubha R, Roy Akhilesh K, Wajid Muhammad, Girisha KM, Malik Sajid, Ahmad Wasim, Koch Manuela C, Grzeschik Karl-Heinz

Get full text

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling by Lin, Y-C, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, N-M, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, R-B, Tartaglia, M