We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Consequences of the delayed diagnosis of ataxia-telangiectasia.
- Authors
Cabana, M D; Crawford, T O; Winkelstein, J A; Christensen, J R; Lederman, H M
- Abstract
Ataxia-telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder in which the diagnosis is obvious when ataxia and telangiectasia are both present. However, the diagnosis can be made upon the onset of ataxia and before the appearance of telangiectasia if confirmed by laboratory tests. Early diagnosis is important for genetic counseling, appropriate care, and avoidance of unnecessary tests. The purpose of this study is to identify factors responsible for delays in the diagnosis of AT.
- Publication
Pediatrics, 1998, Vol 102, Issue 1 Pt 1, p98
- ISSN
0031-4005
- Publication type
Journal Article
- DOI
10.1542/peds.102.1.98