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Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedema.

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第一作者: Alicia B,Byrne
第一单位: Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.;Clinical and Health Sciences, University of South Australia, 5001 Adelaide, Australia.
作者单位: Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.;Clinical and Health Sciences, University of South Australia, 5001 Adelaide, Australia. [1] Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium. [2] Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia. [3] Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia. [4] Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.;Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia. [5] Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.;Genome Editing Program, South Australian Health and Medical Research Institute, 5000 Adelaide, Australia.;South Australian Genome Editing Facility, University of Adelaide, 5005 Adelaide, Australia. [6] Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.;Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.;Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia.;ACRF Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia. [7] Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, 17489 Greifswald, Germany. [8] Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, 26133 Oldenburg, Germany. [9] Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.;Division of Cardiology, Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA. [10] Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. [11] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. [12] Vascular Anomalies Centre, Division of Haematology/Oncology, Cancer and Blood Disorders Centre, Boston Children's Hospital, Boston, PA 02115, USA. [13] Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, Iran. [14] Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.;Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium. [15] Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium.;Centre for Human Genetics, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium. [16] Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.;Anatomical Pathology, SA Pathology, 5000 Adelaide, Australia. [17] Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, 5006 Adelaide, South Australia, Australia. [18] Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.;Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium.;Centre for Human Genetics, Cliniques Universitaires Saint-Luc and University of Louvain, 1200 Brussels, Belgium.;Walloon Excellence in Life Sciences and Biotechnology, University of Louvain, 1200 Brussels, Belgium. [19] Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.;Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia. [20]
DOI 10.1126/scitranslmed.abm4869
PMID 35235341
发布时间 2022-06-17
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Science translational medicine

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