Articles

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children’s Hospital at Westmead, Sydney, Australia;Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Australia
Dana Farber-Boston Children’s Center for Cancer and Blood Disorders, Boston, MA, USA;Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Architecture et Réactivité de l’ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France
Architecture et Réactivité de l’ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France
Department of Pathology, Boston Children’s Hospital, Boston, MA, USA
Dana Farber-Boston Children’s Center for Cancer and Blood Disorders, Boston, MA, USA
Johns Hopkins All Children’s Hospital, St. Petersburg, FL, USA
Division of Pediatric Hematology Oncology, University of Alabama at Birmingham, AL, USA
Levine Children’s Hospital, Charlotte, NC, USA
The Children’s Hospital of Philadelphia, Division of Hematology, Philadelphia, PA, USA;University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Dana Farber-Boston Children’s Center for Cancer and Blood Disorders, Boston, MA, USA;Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Adult Leukemia Program, Dana-Farber Cancer Institute, Boston, MA, USA;Harvard Medical School, Boston, MA USA
Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands
Department of Hematology, Radboud University Medical Centre, Nijmegen, the Netherlands
Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands
Laboratorio Citología Hematológica, Servicio Patología, GRETNHE, IMIM Hospital del Mar Research Institute, Hospital del Mar, Barcelona, Spain
Iron metabolism: regulation and disease group, Josep Carreras Leukaemia Research Institute (IJC), Campus ICO-Germans Trias i Pujol, Campus Can Ruti, Carretera de Can Ruti, Cami de les Escoles, Badalona, Spain
Department of Pediatrics and Adolescents, American University of Beirut Medical Center, Beirut, Lebanon
Department of Pediatrics and Adolescents, American University of Beirut Medical Center, Beirut, Lebanon
Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon
Department of Pediatrics, Saint George Hospital University Medical Center, Beirut, Lebanon
Beatrix Children’s Hospital, Department of Pediatric Hematology, University Medical Center Groningen, University of Groningen, the Netherlands
Department of Medicine, University of Oklahoma College of Medicine, Oklahoma City, OK, USA
Iron metabolism: regulation and disease group, Josep Carreras Leukaemia Research Institute (IJC), Campus ICO-Germans Trias i Pujol, Campus Can Ruti, Carretera de Can Ruti, Cami de les Escoles, Badalona, Spain;Programme of Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Badalona, Spain;BloodGenetics, S.L., Esplugues de Llobregat, Barcelona, Spain
Department of Hematology, University Medical Center Groningen, the Netherlands
Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, the Netherlands
Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children’s Hospital at Westmead, Sydney, Australia;Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Australia;Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, Melbourne, Australia;Department of Paediatrics, Melbourne Medical School, University of Melbourne, Australia
Dana Farber-Boston Children’s Center for Cancer and Blood Disorders, Boston, MA, USA;Department of Pathology, Boston Children’s Hospital, Boston, MA, USA;Harvard Medical School, Boston, MA USA
Vol. 103 No. 12 (2018): December, 2018 https://doi.org/10.3324/haematol.2017.182659