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Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly
Authors:KD Kernohan  A McBride  Y Xi  N Martin  J Schwartzentruber  DA Dyment  J Majewski  S Blaser  CareRare Canada Consortium  D Chitayat
Affiliation:1. Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada;2. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada;3. Genome Quebec Innovation Centre, McGill University, Montreal, Canada;4. Department of Human Genetics, McGill University, Montreal, Canada;5. Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada;6. Department of Diagnostic Imaging, Hospital for Sick Children, University of Toronto, Toronto, Canada
Abstract:
Keywords:brachydactyly  intellectual disability  microcephaly  PRMT7  protein arginine methylation  seizures  short stature  whole exome sequencing  WNT signaling
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