Article
Ataxia-telangiectasia, an evolving phenotype.
DNA repair - 1 Jan 2000
Chun Helen H, Gatti Richard A
Abstract excerpt
Ataxia-telangiectasia (A-T) is a progressive neurodegenerative disorder, with onset in early childhood and a frequency of approximately 1 in 40,000 births in the United States. A-T is seen among all races and is most prominent among ethnic groups with a high frequency of consanguinity. The syndrome includes: progressive cerebellar ataxia, dysarthric speech, oculomotor apraxia, choreoathetosis and, later,...
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