An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

HUMAN MOLECULAR GENETICS

Taylor, SP; Bosakova, MK; Varecha, M; Balek, L; Barta, T; Trantirek, L; Jelinkova, I; Duran, I; Vesela, I; Forlenza, KN; Martin, JH; Hampl, A; Bamshad, M; Nickerson, D; Jaworski, ML; Song, J; Ko, HW; Cohn, DH; Krakow, D; Krejci, P, 2016: An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. HUMAN MOLECULAR GENETICS 25(18), p. 3998 - 4011, doi: 10.1093/hmg/ddw240

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