Global Variome shared LOVD

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Phenotype #0000021046 Individual ID 00024930 Associated disease - Phenotype details incidentally found; diagnosed with immune thrombocytopenic purpura, peripheral blood smears showed prominent appearance of giant platelets; EM no other abnormalities; no leukocyte inclusion bodies, platelets aggregated normally with ADP, collagen and ristocetin; platelet size 5.2 um (mother 4.3, normal 2.9+/-0.6) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-11-21 18:04:19 +01:00 (CET) Date last edited 2014-11-21 18:20:15 +01:00 (CET)

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