Article
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Haematologica - 1 May 2021
Gianferante Matthew D, Wlodarski Marcin W, Atsidaftos Evangelia, Da Costa Lydie, Delaporta Polyxeni, Farrar Jason E, Goldman Frederick D, Hussain Maryam, Kattamis Antonis, Leblanc Thierry, Lipton Jeffrey M, Niemeyer Charlotte M, Pospisilova Dagmar, Quarello Paola, Ramenghi Ugo, Sankaran Vijay G, Vlachos Adrianna, Volejnikova Jana, Alter Blanche P, Savage Sharon A, Giri Neelam
Abstract excerpt
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 deletions and phenotypes not common in DBA. We conducted a multi-institutional genotype-phenotype study of 45 patients with DBA associated with pathogenic RPL35A...
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