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Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.

Blood cells, molecules & diseases - 1 Mar 2020

Volejnikova Jana, Vojta Petr, Urbankova Helena, Mojzíkova Renata, Horvathova Monika, Hochova Ivana, Cermak Jaroslav, Blatny Jan, Sukova Martina, Bubanska Eva, Feketeova Jaroslava, Prochazkova Daniela, Horakova Julia, Hajduch Marian, Pospisilova Dagmar

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia, underlied by haploinsufficient mutations in genes coding for ribosomal proteins (RP) in approximately 70% of cases. DBA is frequently associated with somatic malformations, endocrine dysfunction and with an increased predisposition to cancer. Here we present clinical and genetic characteristics of 62 patients from 52 families enrolled in the...

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PMID: 31855845
DOI: 10.1016/j.bcmd.2019.102380

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