Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

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第一作者： Andrea C,Yu

第一单位： Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

作者： Andrea C,Yu ^[1] ; Regina M,Zambrano ^[2] ; Ingrid,Cristian ^[3] ; Sue,Price ^[4] ; Birgitta,Bernhard ^[5] ; Marc,Zucker ^[6] ; Sunita,Venkateswaran ^[7] ; Jean,McGowan-Jordan ^[8] ; Christine M,Armour ^[9]

作者单位： Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. ^[1] Division of Clinical Genetics, Department of Pediatrics, Louisiana State University Health Science Center, New Orleans, Louisiana. ^[2] Division of Genetics and Metabolism, Department of Pediatrics, Nemours Children's Hospital Orlando, Orlando, Florida. ^[3] Oxford Regional Genetic Service, Churchill Hospital, Oxford, UK. ^[4] North West Thames Regional Genetic Service, North West London Hospitals, Greater London, England. ^[5] Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. ^[6] Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. ^[7] Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada. ^[8] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.;Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada. ^[9]

关键词 7p22.3p22.2 AMZ1 BRAT1 CHST12 EIP3B GNA12 LFNG TTYH3 copy number variant developmental delay