Article
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
European journal of medical genetics - 1 May 2018
Schoenaker M H D, Van Os N J H, Van der Flier M, Van Deuren M, Seyger M M, Taylor A M R, Weemaes C M R, Willemsen M A A P
Abstract excerpt
Ataxia Telangiectasia (AT) is named after the two key clinical features that characterize its classical phenotype, namely a progressive cerebellar gait disorder (ataxia) and vascular anomalies (telangiectasias) visible in the conjunctivae and skin. AT is an autosomal recessively inherited disorder, caused by mutations in the ATM gene that encodes the ATM protein. While the ataxia is subject of many publications,...
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