Discovering a novel pathogenic CDAN1 variant using exome sequencing and bioinformatics analysis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00277-023-05419-8.pdf
Reference6 articles.
1. Roy NBA, Babbs C (2019) The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. Br J Haematol 185(3):436–449. https://doi.org/10.1111/bjh.15817
2. Resnitzky P, Shaft D, Shalev H et al (2017) Morphological features of congenital dyserythropoietic anemia type I: the role of electron microscopy in diagnosis. Eur J Haematol 99(4):366–371. https://doi.org/10.1111/ejh.12931. [published Online First:2017/07/30]
3. Heimpel H (2004) Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol 83(10):613–621. https://doi.org/10.1007/s00277-004-0892-5. [published Online First:2004/07/28]
4. Heimpel H, Kellermann K, Neuschwander N et al (2010) The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica 95(6):1034–1036. https://doi.org/10.3324/haematol.2009.014563. [published Online First:2010/04/28]
5. Wickramasinghe SN (1998) Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data. Blood Rev 12(3):178–200. https://doi.org/10.1016/s0268-960x(98)90016-9. [published Online First:1998/09/24]
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