The introduction of high throughput sequencing (HTS) techniques greatly improved the
knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different …

Platelets play a major role in hemostasis as ppwell as in many other physiological and
pathological processes. Accordingly, production of about 1011 platelet per day as well as …

Inherited platelet disorders resulting from platelet function defects and a normal platelet
count cause a moderate or severe bleeding diathesis. Since the description of Glanzmann …

Hereditary platelet disorders (HPDs) are a group of blood disorders with variable severity
and clinical impact. Although phenotypically there is much overlap, known genetic causes …

The great advances in the knowledge of inherited thrombocytopenias (ITs) made since the
turn of the century have significantly changed our view of these conditions. To date, ITs …

Advances in molecular genetic sequencing techniques have contributed to the elucidation of
previously unknown germline mutations responsible for inherited thrombocytopenia (IT) …

Platelet granules contribute to many aspects of host defense, including hemostasis and
thrombosis, inflammation, angiogenesis, and wound healing. These granules store high …

The inherited thrombocytopenia syndromes are a group of disorders characterized primarily
by quantitative defects in platelet number, though with a variety demonstrating qualitative …

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing
dysmorphic features, developmental delay and congenital heart disease (atrial and …

Inherited thrombocytopenia (IT) is comprised of a group of hereditary disorders
characterized by a reduced platelet count as the main feature, and often with abnormal …