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Article

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.

Annals of human genetics - 1 Jul 2023

Salam Mai Abd El, Salama Khaled, Selim Yasmeen M M, Saad Mariam, Rady Rasha, Alawbathani Salem, Schroeder Sabine, Elmonem Mohamed A, Elkhateeb Nour

Abstract excerpt

INTRODUCTION: Congenital sideroblastic anemias (CSAs) are a group of inherited bone-marrow disorders manifesting with erythroid hyperplasia and ineffective erythropoiesis. METHODS: We describe a detailed clinical and genetic characterization of three siblings with CSA. RESULTS: Two of them had limb-girdle myopathy and global developmental delay. The two elder siblings performed allogenic hematopoietic stem-cell...

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PMID: 36916508
DOI: 10.1111/ahg.12505

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