Ataxia telangiectasia (AT) is a rare autosomal recessive disease caused by mutations in the
ataxia telangiectasia mutated (ATM) gene. In the absence of a family history, the diagnosis …

Ataxia telangiectasia (AT) is a rare, progressive, multisystem disease that has a large
number of complex and diverse manifestations which vary with age. Patients with AT die …

Definition of the disease Ataxia telangiectasia (AT) is an autosomal recessive disorder
primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency …

Introduction Ataxia-telangiectasia (AT) is a rare autosomal recessive syndrome
characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable …

Ataxia-Telangiectasia (AT) is an autosomal recessive disease that coexists with progressive
cerebellar ataxia, immunodeficiency, sinopulmonary infections and skin disorders, including …

Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency
(PID) disease that is caused by mutations in ataxia‐telangiectasia mutated (ATM) gene …

Ataxia‐telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized
by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive …

Abstract Ataxia‐telangiectasia (A‐T) is a rare autosomal recessive disorder caused by
mutations in the ATM gene, resulting in faulty repair of breakages in double‐stranded DNA …

The unique combination of phenotypic manifestations seen in ataxia telangiectasia (AT) has
intrigued neurologists, oncologists, radiation biologists and immunologists for several …

Background Ataxia telangiectasia (AT) is a rare, multi-systemic, genetic disorder. Mutations
in the ATM gene cause dysfunction in cell-cycle, apoptosis and V (D) J recombination …