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GENATLAS PHENOTYPE
last update : 23-01-2009
Symbol EDS10
Location 2q34
Name Ehlers-Danlos syndrome, type X
Other name(s)
  • Ehlers-Danlos syndrome, with platelet dysfunction from fibronectin abnormality
  • Ehlers-Danlos syndrome, dysfibronectinemic type
  • Corresponding gene FN1
    Other symbol(s) EDSX
    Main clinical features
  • defect in platelet aggregation in response to collagen which is partially corrected by normal plasma or cryoprecipitate, suggesting a functionally abnormal fibronectin
  • Genetic determination autosomal recessive
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name ? fibronectin 1(FN1)
    Remark(s)