Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by
complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and …

Ataxia telangiectasia is an early onset neurodegenerative disorder. We report a case of
childhood onset ataxia and ocular telangiectasia, presenting with pulmonary infection. The …

Objective Variant ataxia‐telangiectasia is caused by mutations that allow some retained
ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe the clinical features …

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

Ataxia-telangiectasia (AT) is a devastating human recessive disorder characterized by
progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer …

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 multisystem genetic disorder caused by
a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations …

Ataxia–telangiectasia is a rare autosomal recessive disorder with diverse clinical
manifestations. Patients typically come to medical attention in early childhood because of …

Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

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