Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.
22.
In humans endoglin may be involved in the autosomal dominant disorder known as hereditary hemorrhagic telangiectasia ( HHT ) type 1.
23.
CHD4 has been shown to interact with HDAC1, Histone deacetylase 2, MTA2, and Ataxia telangiectasia and Rad3 related.
24.
Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.
25.
The defect also causes a rare and fatal childhood disease called AT ( ataxia telangiectasia ), which affects neurological and immune function.
26.
The inherited neurological disorders Machado Joseph disease, ataxia telangiectasia, and Friedreich's ataxia cause progressive neurodegeneration linked to cerebellar loss.
27.
Macular telangiectasia describes two distinct retinal diseases affecting the macula of the eye, macular telangiectasia type 1 and macular telangiectasia type 2.
28.
Macular telangiectasia describes two distinct retinal diseases affecting the macula of the eye, macular telangiectasia type 1 and macular telangiectasia type 2.
29.
Macular telangiectasia describes two distinct retinal diseases affecting the macula of the eye, macular telangiectasia type 1 and macular telangiectasia type 2.
30.
One of Charves's daughters has ataxia telangiectasia, a deadly genetic disease that afflicts only about 650 children in the United States.
