GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

导出 OA

翻译打印收藏纠错

第一作者： P Y Billie,Au

第一单位： Department of Medical Genetics, University of Calgary, Cumming School of Medicine, Alberta, Canada.

作者： P Y Billie,Au ^[1] ; Jing,You ^[2] ; Oana,Caluseriu ^[3] ; Jeremy,Schwartzentruber ^[4] ; Jacek,Majewski ^[5] ; Francois P,Bernier ^[5] ; Marcia,Ferguson ^[1] ; Care for Rare Canada Consortium ^[6] ; David,Valle ^[7] ; Jillian S,Parboosingh ^[3] ; Nara,Sobreira ^[8] ; A Micheil,Innes ^[9] ; Antonie D,Kline ^[1]

作者单位： Department of Medical Genetics, University of Calgary, Cumming School of Medicine, Alberta, Canada. ^[1] Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. ^[2] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. ^[3] Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. ^[4] Department of Human Genetics, McGill and Genome Quebec Innovation Center, McGill University, Quebec, Canada. ^[5] Alberta Children's Hospital, Research Institute for Child and Maternal Health, University of Calgary, Alberta, Canada. ^[6] Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, MD. ^[7] Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA. ^[8] Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. ^[9]

关键词 GeneMatcher HNRNPK WES matchmaker exchange reverse phenotyping