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Article

The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.

European journal of pediatrics - 1 Dec 2021

Vogel Nicole, Schmugge Markus, Renella Raffaele, Waespe Nicolas, Hengartner Heinz

Abstract excerpt

Diamond-Blackfan anemia (DBA) is caused mainly by genetic mutations in large (RPL) or small ribosomal subunit genes (RPS) and presents with macrocytic anemia and congenital malformations. Clinical differences between genotypes are insufficiently understood. The aim of this study was to assess clinical features, treatment strategies, and genotypes in the Swiss pediatric DBA population. We retrospectively reviewed...

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Identifiers

PMID: 34110484
DOI: 10.1007/s00431-021-04146-4

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