Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing

Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecular genetic investigations by summarizing the diag...

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Bibliographic Details
Main Authors: Réka Gindele, Adrienne Kerényi, Judit Kállai, György Pfliegler, Ágota Schlammadinger, István Szegedi, Tamás Major, Zsuzsanna Szabó, Zsuzsa Bagoly, Csongor Kiss, János Kappelmayer, Zsuzsanna Bereczky
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Life
Subjects:
next generation sequencing
rare bleeding disorders
von Willebrand disease
hemophilia A
hereditary hemorrhagic telangiectasia
differential diagnosis
Online Access:https://www.mdpi.com/2075-1729/11/3/202

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