Add to ORKGWe have studied an inbred family in which two cousins presented with the same clinical features of ataxia telangiectasia (AT). Both patients are still ambulatory at ages 25 and 20. Cellular features of both patients are typical of AT and include increased radiosensitivity and an increased level of spontaneously occurring chromosome aberrations in peripheral blood lymphocytes. Linkage studies and haplotype analysis show no clear evidence that the gene for AT in this family is on chromosome 11q22-23. As previously reported AT families from complementation groups AB, C, and D have all shown linkage to this region of 11q22-23. Our study is of importance in suggesting additional locus heterogeneity
Background Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk fo...
IN ataxia telangiectasia (AT), an autosomal recessive disease of man with neurological, cutaneous an...
Abstract Objective Variant Ataxia-Telangiectasia is caused by mutations that allow some retained AT...
Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration...
Two ataxia telangiectasia patients with unusual clinical and cellular features are described. Cultur...
Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degenerati...
The defining characteristic of recessive diseases is the absence of a phenotype in the heterozygous ...
Ataxia with oculomotor apraxia (ataxia-telangiectasia–like syndrome [AOA]; MIM 208920) is an autosom...
We diagnosed two boys with two different chromosomal instability disorders such as Fanconi anemia (F...
We identified a subgroup of ataxia-telangiectasia (AT) patients (2 sibs and 1 unrelated case) charac...
AbstractObjective: Ataxia telangiectasia (AT) is a rare autosomal recessive disorder caused by mutat...
Ataxia with oculomotor apraxia (ataxia-telangiectasia–like syndrome [AOA]; MIM 208920) is an autosom...
Variant ataxia telangiectasia (A-T) may be an underdiagnosed entity. We correlate data from radiosen...
We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset ...
Item does not contain fulltextAtaxia telangiectasia (AT) is an autosomal recessive disorder characte...
Background Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk fo...
IN ataxia telangiectasia (AT), an autosomal recessive disease of man with neurological, cutaneous an...
Abstract Objective Variant Ataxia-Telangiectasia is caused by mutations that allow some retained AT...
Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration...
Two ataxia telangiectasia patients with unusual clinical and cellular features are described. Cultur...
Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degenerati...
The defining characteristic of recessive diseases is the absence of a phenotype in the heterozygous ...
Ataxia with oculomotor apraxia (ataxia-telangiectasia–like syndrome [AOA]; MIM 208920) is an autosom...
We diagnosed two boys with two different chromosomal instability disorders such as Fanconi anemia (F...
We identified a subgroup of ataxia-telangiectasia (AT) patients (2 sibs and 1 unrelated case) charac...
AbstractObjective: Ataxia telangiectasia (AT) is a rare autosomal recessive disorder caused by mutat...
Ataxia with oculomotor apraxia (ataxia-telangiectasia–like syndrome [AOA]; MIM 208920) is an autosom...
Variant ataxia telangiectasia (A-T) may be an underdiagnosed entity. We correlate data from radiosen...
We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset ...
Item does not contain fulltextAtaxia telangiectasia (AT) is an autosomal recessive disorder characte...
Background Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk fo...
IN ataxia telangiectasia (AT), an autosomal recessive disease of man with neurological, cutaneous an...
Abstract Objective Variant Ataxia-Telangiectasia is caused by mutations that allow some retained AT...