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Хвороба пулу ізольованого дельта-накопичувача

ORPHA:248340· ICD-10 D69.1· Isolated delta-storage pool disease

Визначення(English summary)

Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.

Успадкування
Autosomal dominant, Autosomal recessive