%0 Journal Article %T 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 %+ Architecture et Réactivité de l'ARN (ARN) %+ St Jude Children's Research Hospital %+ 849 Department of Human Genetics %+ Balamand University Medical School %+ Genetic Metabolic Disorders Research Unit %A Riley, Lisa %A Heeney, Matthew %A Rudinger-Thirion, Joëlle %A Frugier, Magali %A Campagna, Dean %A Zhou, Ronghao %A Hale, Gregory, A. %A Hilliard, Lee %A Kaplan, Joel %A Kwiatkowski, Janet %A Sieff, Colin %A Steensma, David %A Rennings, Alexander %A Simons, Annet %A Schaap, Nicolaas %A Roodenburg, Richard %A Kleefstra, Tjitske %A Arenillas, Leonor %A Fita-Torró, Josep %A Ahmed, Rasha %A Abboud, Miguel %A Bechara, Elie %A Farah, Roula %A Tamminga, Rienk %A Bottomley, Sylvia %A Sanchez, Mayka %A Huls, Gerwin %A Swinkels, Dorine %A Christodoulou, John %A Fleming, Mark %< avec comité de lecture %@ 0390-6078 %J Haematologica %I Ferrata Storti Foundation %V 103 %N 12 %P 2008-2015 %8 2018-11-30 %D 2018 %R 10.3324/haematol.2017.182659 %Z Life Sciences [q-bio]Journal articles %G English %L hal-02118688 %U https://cnrs.hal.science/hal-02118688 %~ CNRS %~ UNIV-STRASBG %~ SITE-ALSACE