Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritance, it is caused by more than 500 mutations of the ATM gene, which is involved in the cellular response to DNA damage. The diagnosis becomes difficult due to the evolution of the disease, their poor knowledge, and limited access to diagnostic tests. Chromosomal damage induced by ionizing radiation (IR) assay is still a sensitive method for early diagnosis, and it is essential for better management and genetic counseling. This paper shows diagnosis and follow-up in four cases with AT
Objectives: To utilize radiosensitivity testing to improve early diagnosis of patients with ataxia-t...
Ataxia telangiectasia (A-T) is one of a group of autosomal recessive cerebellar ataxias. Presentatio...
SUMMARY 13 children with ataxia-telangiectasia were followed for 6 years. Unlike previously reported...
Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritanc...
Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritanc...
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, te...
Ataxia-telangiectasia (AT) is an autosomal recessively inherited disease (one case in 40 000 to one ...
Abstract Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder pr...
Ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia, oculocutaneous telang...
IN ataxia telangiectasia (AT), an autosomal recessive disease of man with neurological, cutaneous an...
Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degenerati...
Ataxia-telengiectasia (AT) is a rare multisystemic autosomal-recessive disease characterized with oc...
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degenerati...
RESUMO A ataxia-telengiectasia (AT) é uma doença genética, autossómica recessiva, causada pela mu...
Ataxia telangiectasia (AT) belongs to a group of inherited conditions, known as the genomic instabil...
Objectives: To utilize radiosensitivity testing to improve early diagnosis of patients with ataxia-t...
Ataxia telangiectasia (A-T) is one of a group of autosomal recessive cerebellar ataxias. Presentatio...
SUMMARY 13 children with ataxia-telangiectasia were followed for 6 years. Unlike previously reported...
Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritanc...
Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritanc...
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, te...
Ataxia-telangiectasia (AT) is an autosomal recessively inherited disease (one case in 40 000 to one ...
Abstract Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder pr...
Ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia, oculocutaneous telang...
IN ataxia telangiectasia (AT), an autosomal recessive disease of man with neurological, cutaneous an...
Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degenerati...
Ataxia-telengiectasia (AT) is a rare multisystemic autosomal-recessive disease characterized with oc...
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degenerati...
RESUMO A ataxia-telengiectasia (AT) é uma doença genética, autossómica recessiva, causada pela mu...
Ataxia telangiectasia (AT) belongs to a group of inherited conditions, known as the genomic instabil...
Objectives: To utilize radiosensitivity testing to improve early diagnosis of patients with ataxia-t...
Ataxia telangiectasia (A-T) is one of a group of autosomal recessive cerebellar ataxias. Presentatio...
SUMMARY 13 children with ataxia-telangiectasia were followed for 6 years. Unlike previously reported...
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