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

Autor: Paige Taylor S; Department of Human Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA., Kunova Bosakova M; Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic., Varecha M; Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic., Balek L; Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic., Barta T; Department of Histology and Embryology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic., Trantirek L; Central European Institute of Technology, Masaryk University, Kamenice 753/5, 62500 Brno, Czech Republic., Jelinkova I; Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic., Duran I; Department of Orthopaedic Surgery.; Department of Human Genetics.; Department of Obstetrics and Gynecology, Orthopaedic Institute for Children, University of California Los Angeles, Los Angeles, CA 90095, USA., Vesela I; Institute of Experimental Biology, Masaryk University, 62500 Brno, Czech Republic., Forlenza KN; Department of Orthopaedic Surgery.; Department of Human Genetics.; Department of Obstetrics and Gynecology, Orthopaedic Institute for Children, University of California Los Angeles, Los Angeles, CA 90095, USA., Martin JH; Department of Orthopaedic Surgery.; Department of Human Genetics.; Department of Obstetrics and Gynecology, Orthopaedic Institute for Children, University of California Los Angeles, Los Angeles, CA 90095, USA., Hampl A; Department of Histology and Embryology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic., Bamshad M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson D; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Jaworski ML; Virginia Commonwealth University, Richmond, VA 23298, USA., Song J; College of Pharmacy, Dongguk University-Seoul, Goyang 410-820, Korea., Ko HW; College of Pharmacy, Dongguk University-Seoul, Goyang 410-820, Korea., Cohn DH; Department of Orthopaedic Surgery.; International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, CA 90095, USA.; Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CA 90095, USA., Krakow D; Department of Human Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA DKrakow@mednet.ucla.edu.; Department of Orthopaedic Surgery.; International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, CA 90095, USA., Krejci P; Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic.; Department of Orthopaedic Surgery.; International Clinical Research Center, St. Anne's University Hospital, 65691 Brno, Czech Republic.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2016 Sep 15; Vol. 25 (18), pp. 3998-4011. Date of Electronic Publication: 2016 Jul 27.