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Mutations in CSPP1 cause primary cilia abnormalities and joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

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第一作者: Tuz,K.
作者单位: Center for Neuropharmacology and Neuroscience, Albany Medical College, Albany, NY 12208, United [1] Neurogenetics Division, Clinics Hospital, University of S?o Paulo, Ribeir?o Preto, S?o Paulo 14049 [2] Departments of Neurology and Pediatrics, Royal Children's Hospital, University of Melbourne [3] Department of Radiology, University of Washington, Seattle Children's Hospital, Seattle, WA 98105 [4] Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, AIMS [5] Divisions of Genetic Medicine and Developmental Medicine, Department of Pediatrics, University of [6] Neuromuscular and Neurogenetic Disorders of Childhood Section, John Edward Porter Neuroscience [7] Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States [8] Department of Genome Sciences, University of Washington, Seattle, WA 98195, United States [9] MediScan Systems, Mylapore, Chennai 600 004, India [10] Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, VIC 3052 [11] Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston [12] Department of Pediatrics, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia [13] Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland [14] Department of Child Neurology, Hacettepe University Medical Faculty, Ihsan DogramacI Children's [15] Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97239 [16] Pediatric Neurology Unit, De Karadeniz Technical University, Trabzon 61080, Turkey [17] Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland, Institute of [18]
发布时间 2014-03-27
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The American Journal of Human Genetics

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