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

作者信息

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

出版信息

Clin Genet. 1985 Nov;28(5):367-74. doi: 10.1111/j.1399-0004.1985.tb02209.x.

Abstract

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.

摘要

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