Variants
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Platelet-type bleeding disorder 15

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Description

Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

19

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Genes

External Links

  • OMIM

    615193

  • Orphanet
  • HPO
  • Medgen

    C3554663

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