Article
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.
European journal of haematology - 1 Feb 2018
van Dooijeweert Birgit, van Ommen C Heleen, Smiers Frans J, Tamminga Rienk Y J, Te Loo Maroeska W, Donker Albertine E, Peters Marjolein, Granzen Bernd, Gille Hans J J P, Bierings Marc B, MacInnes Alyson W, Bartels Marije
Abstract excerpt
INTRODUCTION: Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. Most of our understanding of this disorder stems from molecular studies combined with extensive data input from international patient registries. OBJECTIVES: To create an overview of the pediatric DBA population in the Netherlands. METHODS: Forty-three patients diagnosed...
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