Article
Clinical spectrum of ataxia-telangiectasia in adulthood.
Neurology - 11 Aug 2009
Verhagen M M M, Abdo W F, Willemsen M A A P, Hogervorst F B L, Smeets D F C M, Hiel J A P, Brunt E R, van Rijn M A, Majoor Krakauer D, Oldenburg R A, Broeks A, Last J I, van't Veer L J, Tijssen M A J, Dubois A M I, Kremer H P H, Weemaes C M R, Taylor A M R, van Deuren M
Abstract excerpt
OBJECTIVE: To describe the phenotype of adult patients with variant and classic ataxia-telangiectasia (A-T), to raise the degree of clinical suspicion for the diagnosis variant A-T, and to assess a genotype-phenotype relationship for mutations in the ATM gene. METHODS: Retrospective analysis of the clinical characteristics and course of disease in 13 adult patients with variant A-T of 9 families and 6 unrelated...
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