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

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

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

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 (AT) is an autosomal recessive multisystem genetic disorder caused by
a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations …

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem
disorder. A minority of AT patients can present late-onset atypical presentations due to …

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 …

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 one of a group of autosomal recessive cerebellar ataxias.
Presentation is usually by the age of 2 years and ataxia of both upper and lower limbs …

ABSTRACT Introduction: Ataxia-telangiectasia (AT) a multisystem disorder primarily
characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer …