Diagnosis of rare bleeding disorders
until further notice
SourceHaemophilia, 27 Suppl 3, (2021), pp. 60-65
Article / Letter to editor
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vol. 27 Suppl 3
SubjectRadboudumc 16: Vascular damage RIHS: Radboud Institute for Health Sciences
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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