A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis.

نویسندگان

  • H Stormorken
  • O Sjaastad
  • A Langslet
  • I Sulg
  • K Egge
  • J Diderichsen
چکیده

A new multifacetted syndrome inherited as an autosomal, dominant trait is described encompassing not only two hitherto undescribed hereditary defects--thrombocytopathia and asplenia--but also muscle contractile defect, migraine-like headache, miosis, dyslexia and ichthyosis. None of these defects has so far been assigned to a specific chromosome or linkage group. Further studies on the various aspects of the syndrome are in progress.

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عنوان ژورنال:
  • Clinical genetics

دوره 28 5  شماره 

صفحات  -

تاریخ انتشار 1985