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

Lisa Riley (1) , Matthew Heeney , Joëlle Rudinger-Thirion (2) , Magali Frugier (2) , Dean Campagna , Ronghao Zhou , Gregory A. Hale (3) , Lee Hilliard , Joel Kaplan , Janet Kwiatkowski , Colin Sieff , David Steensma , Alexander Rennings , Annet Simons , Nicolaas Schaap , Richard Roodenburg , Tjitske Kleefstra (4) , Leonor Arenillas , Josep Fita-Torró , Rasha Ahmed , Miguel Abboud , Elie Bechara , Roula Farah (5) , Rienk Tamminga , Sylvia Bottomley , Mayka Sanchez , Gerwin Huls , Dorine Swinkels , John Christodoulou (6) , Mark Fleming

1 Genetic Metabolic Disorders Research Unit
2 ARN - Architecture et Réactivité de l'ARN
3 St Jude Children's Research Hospital
4 849 Department of Human Genetics
5 Balamand University Medical School
6 Genetic Metabolic Disorders Research Unit

Domains: Life Sciences [q-bio]

Lisa Riley, Matthew Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean Campagna, et al.. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩. ⟨hal-02118688⟩