Article
Molecular pathology of ataxia telangiectasia.
Journal of clinical pathology - 1 Oct 2005
Taylor A M R, Byrd P J
Abstract excerpt
Ataxia telangiectasia (A-T) is one of a group of autosomal recessive cerebellar ataxias. Presentation is usually by the age of 2 years and ataxia of both upper and lower limbs develops, such that by early teenage most patients require a wheelchair for mobility. Speech and eye movement are also affected. Other important features are t(7;14) translocations, immunodeficiency, a high serum alpha fetoprotein...
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