Article
[Ataxia-telangiectasia: a review].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Mar 2006
Bott L, Thumerelle C, Cuvellier J C, Deschildre A, Vallée L, Sardet A
Abstract excerpt
Ataxia-telangiectasia (AT) is an autosomal recessive inherited disease caused by mutational inactivation of the ATM gene. It is a multisystemic disease, characterized by progressive neurological dysfunction, especially in the cerebellum, oculo-cutaneous telangiectasia, immunodeficiency, recurrent sino-pulmonary infections and high incidence of neoplasms. The responsible gene, ATM, encodes a large protein that...
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