Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

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第一作者： Reza,Asadollahi

第一单位： Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

作者： Reza,Asadollahi ^[1] ; Justin E,Strauss ^[2] ; Martin,Zenker ^[3] ; Oliver,Beuing ^[4] ; Simon,Edvardson ^[5] ; Orly,Elpeleg ^[6] ; Tim M,Strom ^[7] ; Pascal,Joset ^[1] ; Dunja,Niedrist ^[1] ; Christine,Otte ^[1] ; Beatrice,Oneda ^[1] ; Paranchai,Boonsawat ^[1] ; Silvia,Azzarello-Burri ^[1] ; Deborah,Bartholdi ^[1] ; Michael,Papik ^[1] ; Markus,Zweier ^[1] ; Cordula,Haas ^[8] ; Arif B,Ekici ^[9] ; Alessandra,Baumer ^[1] ; Eugen,Boltshauser ^[10] ; Katharina,Steindl ^[1] ; Michael,Nothnagel ^[11] ; Albert,Schinzel ^[1] ; Esther T,Stoeckli ^[2] ; Anita,Rauch ^[12]

作者单位： Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland. ^[1] Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland. ^[2] Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany. ^[3] Institute of Neuroradiology, Otto-von-Guericke-University Magdeburg, Magdeburg, Germany. ^[4] Pediatric Neurology Unit, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel. ^[5] Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ^[6] Institute of Human Genetics, Technische Universität München, Munich, Germany. ^[7] Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland. ^[8] Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany. ^[9] Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland. ^[10] Cologne Center for Genomics, Department of Statistical Genetics and Bioinformatics, University of Cologne, Cologne, Germany. ^[11] Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland. ^[12] Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland. anita.rauch@medgen.uzh.ch. ^[13] Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch. ^[14] Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch. ^[15]