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X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings
Authors:Shalini Umranikar  Phyllis Glanc  Sheila Unger  Sarah Keating  Katherine Fong  Christopher D Trevors  Diane Myles-Reid  David Chitayat
Institution:1. Department of Medical Imaging, Women's College Campus, Sunnybrook and Women's Health Sciences Center, University of Toronto, Toronto, Ontario, Canada;2. Institute for Human Genetics, University of Freibug, Freiburg, Germany;3. Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada;4. Department of Medical Imaging, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada;5. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;6. Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital and Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Abstract:
Keywords:Chondrodysplasia punctata  conradi-hünermann-happle syndrome  CDPX2  skeletal dysplasia  ultrasound
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