Ataxia-Telangiectasia (AT) is an autosomal recessive disorder caused by variants in ATM
gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo …

Background Ataxia-telangiectasia (AT) is a multisystem genetic disorder involving ataxia,
oculocutaneous telangiectasia, and immunodeficiency caused by biallelic pathogenic …

Objective To report 4 cases of ataxia-telangiectasia (AT) with ATM genetic mutation and to
summarize the clinical and genetic characteristics of AT by literatures review. Methods …

Objective To investigate the clinical manifestation and mutation characteristics of ATM gene
in Chinese patients with ataxia-telangiectasia (AT). Methods Sequence variants of the entire …

Objective: The clinical manifestations of Ataxia-Telangiectasia (AT) are very complex and
are easy misdiagnosed and missed. The purpose of this study was to explore the clinical …

Ataxia-telangiectasia (AT) is an infrequent autosomal recessive multisystem disorder
characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, a tendency …

Ataxia telangiectasia (A–T) is an autosomal recessive disorder characterized by cerebellar
ataxia, telangiectasia, immunodeficiency, elevated α-fetoprotein level, chromosomal …

Ataxia telangiectasia is a rare autosomal recessive multisystem disorder caused by
mutations in the gene of ATM serine/threonine kinase. It is characterized by …

Background Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative
disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants …

Objectives Ataxia telangiectasia (AT) is a rare autosomal recessive disorder caused by
mutation in the Ataxia telangiectasia mutated (ATM) gene. This disorder is characterized by …