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Rev Med Interne ; 33(2): 99-102, 2012 Feb.
Article in French | MEDLINE | ID: mdl-22217922

ABSTRACT

INTRODUCTION: The MYH9 syndrome is a group of rare autosomal dominant platelet disorders associating in most of the cases a macrothrombocytopenia and characteristic leukocyte inclusions. Clinical features may include renal, visual, or hearing impairment. The bleeding tendency is usually moderate. CASE REPORT: We report a 28-year-old-man, with an auto-immune haemolytic anaemia associated with a MYH9 syndrome. CONCLUSION: To our knowledge, this is the first report of such an association.


Subject(s)
Anemia, Hemolytic, Autoimmune/genetics , Molecular Motor Proteins/blood , Molecular Motor Proteins/genetics , Myosin Heavy Chains/blood , Myosin Heavy Chains/genetics , Adult , Anemia, Hemolytic, Autoimmune/blood , Biomarkers/blood , Chromosomes, Human, Pair 22/genetics , Exons , Gene Expression Regulation , Humans , Male , Mutation , Syndrome
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