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Home > Ataxia telangiectasia


Ataxia telangiectasia (AT) is a rare genetic disorder.

Telangiectasias are smalls, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT.

The 'ataxia' part of the name refers to the difficulty patients with AT have walking.

In AT ATM (ataxia telangiectasia mutated) kinase is abnormal. It is important for the surveillance and repair of damaged DNA


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