A rare haematologic disease due to defective platelet function and characterised by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, haematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anaemia have also been reported.
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3438646011
Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency
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3438647019
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I