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 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
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https://hal-cnrs.archives-ouvertes.fr/hal-02118688
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Submitted on : Friday, May 3, 2019 - 11:38:35 AM
Last modification on : Saturday, May 4, 2019 - 1:25:46 AM

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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, Ferrata Storti Foundation, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩. ⟨hal-02118688⟩

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