期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 355, 期 1-2, 页码 3-6出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2015.05.022
关键词
Ataxia-telangiectasia; Cerebellar ataxia; Immunodeficiency; Malignancies; Oculocutaneous telangiectasia; Alpha-fetoprotein
资金
- NIH [NS083564]
The authors review ataxia telangiectasia, emphasizing historical aspects, genetic discoveries, and the clinical presentations of the classical and atypical forms. In fact, ataxia telangiectasia represents a multisystem entity with pleomorphic neurological and systemic manifestations. ATM syndrome is proposed as a more adequate designation for this entity. (C) 2015 Elsevier B.V. All rights reserved.
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