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Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38

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  • Contributors WSW, KFW and HFW contributed to the planning of work and wrote the manuscript. KOC performed the clinical work up and managed the patient. CKC, HFW, NPH-C and MHL-N were responsible for the molecular study. All authors approved the version of the manuscript being submitted.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Department of Pathology, Queen Elizabeth Hospital.

  • Provenance and peer review Not commissioned; externally peer reviewed.