Article
Ataxia telangiectasia.
Handbook of clinical neurology - 1 Jan 2015
Nissenkorn Andreea, Ben-Zeev Bruria
Abstract excerpt
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations include cutaneous telangiectasias, radiosensitivity, immune deficiency with recurrent sinopulmonary infections, and a tendency to develop lymphoid malignancies. These complications are explained by the major role played by ATM in DNA...
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