Ataxia telangiectasia: a review

Ataxia telangiectasia: a review

Abstract Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage resp...

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Bibliographic Details
Main Authors: Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman
Format: Article
Language:English
Published: BMC 2016-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cancer
Neurodegeneration
Cerebellum
Purkinje cells
Immunodeficiency
Dysphagia
Online Access:http://link.springer.com/article/10.1186/s13023-016-0543-7

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http://link.springer.com/article/10.1186/s13023-016-0543-7

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