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Mutation in this gene have been shown to cause gray platelet syndrome.
A deficiency of alpha granules is known as grey platelet syndrome.
Biochemical studies of two patients with the grey platelet syndrome: Selective deficiency of platelet alpha granules.
Pseudo-gray platelet syndrome differs from gray platelet syndrome (GPS), one of the giant platelet syndromes.
The Gray Platelet Syndrome is an inherited bleeding disorder where the platelets have a gray appearance with severe thrombocytopenia, myelofibrosis, and splenomegaly.
Platelet disorders lead to defects in hemostasis and produce signs and symptoms from coagulation factor deficiencies such as Bernard-Soulier syndrome, gray platelet syndrome and May-Hegglin anomaly.
Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis.