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Published on: July 10, 2017
Diagnosis of rare bleeding disorders
Karina Meijer1, Waander van Heerde2,3, Keith Gomez4
1Division of Thrombosis and Haemostasis, Department of Haematology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Rare bleeding disorders result in significant morbidity but are globally underdiagnosed. Advances in genomic testing and specialist laboratory assays have greatly increased the diagnostic armamentarium. This has resulted in the discovery of new genetic causes for rare diseases and a better understanding of the underlying molecular pathology.
Rare bleeding disorders result in significant morbidity but are globally underdiagnosed. Advances in genomic testing and specialist laboratory assays have greatly increased the diagnostic armamentarium. This has resulted in the discovery of new genetic causes for rare diseases and a better understanding of the underlying molecular pathology.
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