Article
[Ataxia-telangiectasia surveyed in Sweden].
Lakartidningen - 4 Oct 2000
Lähdesmäki A, Arinbjarnarson K, Arvidsson J, el Segaier M, Fasth A, Fernell E, Gustafsson D, Oxelius V A, Risberg K, Yuen J, Zetterlund P, von Zweigbergk M, Ahsgren I, Hammarström L
Abstract excerpt
Ataxia-telangiectasia (AT) is a rare autosomal recessive disease with a complex phenotype involving cerebellar degeneration, immunodeficiency, cancer risk and radiosensitivity. Our aim has been to identify Swedish AT patients in order to study the possible "Swedish phenotype" of the disease. In the 19 patients identified in Sweden we found a phenotype fairly similar to what has been described internationally,...
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