ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

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Title: ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.
Authors: Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., March ME; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gutierrez-Uzquiza A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biochemistry and Molecular Biology II, School of Pharmacy, Complutense University, Madrid, Spain., Kao C; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Seiler C; Zebrafish Core Facility, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA., Pinto E; Center for Lymphatic Imaging and Interventions, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Matsuoka LS; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Battig MR; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wenger TL; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, WA, USA., Tian L; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Robinson N; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang T; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Liu Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Weinstein BM; Division of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Swift M; Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington DC, USA., Jung HM; Division of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Kaminski CN; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Chiavacci R; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Perkins JA; Division of Otolaryngology-Head and Neck Surgery, Seattle Children's Hospital, Seattle, WA, USA., Levine MA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Sleiman PMA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Hicks PJ; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Strausbaugh JT; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Belasco JB; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dori Y; Center for Lymphatic Imaging and Interventions, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@email.chop.edu.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. hakonarson@email.chop.edu.; Divisions of Human Genetics and Pulmonary Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@email.chop.edu.
Source: Nature medicine [Nat Med] 2019 Jul; Vol. 25 (7), pp. 1116-1122. Date of Electronic Publication: 2019 Jul 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
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Center for Lymphatic Imaging and Interventions, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Matsuoka+LS%22">Matsuoka LS</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Battig+MR%22">Battig MR</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Bhoj+EJ%22">Bhoj EJ</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Wenger+TL%22">Wenger TL</searchLink>; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Tian+L%22">Tian L</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Robinson+N%22">Robinson N</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Wang+T%22">Wang T</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Liu+Y%22">Liu Y</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Weinstein+BM%22">Weinstein BM</searchLink>; Division of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Swift+M%22">Swift M</searchLink>; Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington DC, USA.<br /><searchLink fieldCode="AU" term="%22Jung+HM%22">Jung HM</searchLink>; Division of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Kaminski+CN%22">Kaminski CN</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Chiavacci+R%22">Chiavacci R</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Perkins+JA%22">Perkins JA</searchLink>; Division of Otolaryngology-Head and Neck Surgery, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Levine+MA%22">Levine MA</searchLink>; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Sleiman+PMA%22">Sleiman PMA</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Hicks+PJ%22">Hicks PJ</searchLink>; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Strausbaugh+JT%22">Strausbaugh JT</searchLink>; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Belasco+JB%22">Belasco JB</searchLink>; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Dori+Y%22">Dori Y</searchLink>; Center for Lymphatic Imaging and Interventions, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Hakonarson+H%22">Hakonarson H</searchLink>; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@email.chop.edu.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. hakonarson@email.chop.edu.; Divisions of Human Genetics and Pulmonary Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@email.chop.edu.
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