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Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris
Authors:Almundher Al‐Maawali  Christian R. Marshall  Stephen W. Scherer  Lucie Dupuis  Roberto Mendoza‐Londono  Dimitri J. Stavropoulos
Affiliation:1. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;2. The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada;3. Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada;4. Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada;5. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
Abstract:
Keywords:12q deletion  CGH‐array  intellectual disability  facial dysmorphism, keratosis pilaris
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