Bernard–Soulier Syndrome: An Inherited Platelet Disorder
نویسندگان
چکیده
منابع مشابه
Bernard-Soulier syndrome: an inherited platelet disorder.
Bernard-Soulier syndrome is an inherited platelet disorder, which is transmitted in an autosomal recessive manner. This syndrome is characterized by variable thrombocytopenia and large defective platelets. Bernard-Soulier syndrome often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be confirmed by...
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Inherited platelet disorders (IPDs) comprise a heterogenous group of diseases that include defects in platelet function and disordered megakaryopoiesis. Some IPDs overlap as both defects in function and thrombopoiesis, resulting in both altered aggregation and/or secretion and thrombocytopenia. This review examines the key features of the presentation of IPDs in children and adults and presents...
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ژورنال
عنوان ژورنال: International Journal of Human Genetics
سال: 2002
ISSN: 0972-3757
DOI: 10.1080/09723757.2002.11885807