The MYH9 gene encodes the heavy chain of non-muscle myosin IIA, a widely expressed
cytoplasmic myosin that participates in a variety of processes requiring the generation of …

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 …

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

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 …

Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by
enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal …

Non-muscle myosin 2A (NM2A) is a motor cytoskeletal enzyme with crucial importance from
the early stages of development until adulthood. Due to its capacity to convert chemical …

Abnormalities of platelet size are one of the distinguishing features of inherited
thrombocytopenias (ITs), and evaluation of blood films is recommended as an essential step …

Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited
defects in platelet production and/or function. Their genetic diagnosis would benefit clinical …

Background Heritable bleeding and platelet disorders (BPD) are heterogeneous and
frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new …

MYH9-related disease patients with mutations in the contractile protein nonmuscle myosin
heavy chain IIA display, among others, macrothrombocytopenia and a mild-to-moderate …