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Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or <i>PIK3CA</i>-related overgrowth spectrum.

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第一作者: Timothy E,Green
第一单位: Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia.
作者单位: Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia. [1] Victorian Clinical Genetics Services, Melbourne, Parkville, Australia.;Tasmanian Clinical Genetics Service, Hobart, Tasmania, Australia.;Murdoch Children's Research Institute, Melbourne, Parkville, Australia. [2] Victorian Clinical Genetics Services, Melbourne, Parkville, Australia.;Murdoch Children's Research Institute, Melbourne, Parkville, Australia.;Royal Children's Hospital Department of Paediatrics, University of Melbourne, Parkville, Australia. [3] Victorian Clinical Genetics Services, Melbourne, Parkville, Australia.;Murdoch Children's Research Institute, Melbourne, Parkville, Australia. [4] Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia.;Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.;Department of Medical Biology, University of Melbourne, Parkville, Australia. [5] Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia.;Victorian Clinical Genetics Services, Melbourne, Parkville, Australia.;Murdoch Children's Research Institute, Melbourne, Parkville, Australia.;Royal Children's Hospital Department of Paediatrics, University of Melbourne, Parkville, Australia.;Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, Australia. [6] Department of General Medicine, Royal Children's Hospital, Melbourne, Australia.;Department of Paediatrics, Monash University, Clayton, Australia. [7] Anatomical Pathology, Royal Children's Hospital, Parkville, Australia. [8] Murdoch Children's Research Institute, Melbourne, Parkville, Australia.;Department of Dermatology, Royal Children's Hospital, Melbourne Australia. [9] Royal Children's Hospital Department of Paediatrics, University of Melbourne, Parkville, Australia.;Department of Dermatology, Royal Children's Hospital, Melbourne Australia. [10] Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, Australia. [11] Murdoch Children's Research Institute, Melbourne, Parkville, Australia.;Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, Australia.;Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, Australia. [12] Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Australia.;Murdoch Children's Research Institute, Melbourne, Parkville, Australia. [13]
DOI 10.1016/j.gimo.2023.100837
PMID 39669602
发布时间 2024-12-14
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