Ataxia-telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder, and has symptoms similar to ataxia-telangi-ectasia (AT). ATLD is caused by mutations in the MRE11 gene, involved inDNAdouble-strandbreak repair (DSBR). In contrast to AT, ATLD patients lack key clinical features, such as telangi-ectasia or immunodeficiency, and are therefore difficult to be diagnosed. We report a female ATLD patient presenting with hypergonadotropic hypogonadism and hypersegmented neutro-phils, previously undescribed features in this disorder, and potential diagnostic clues to differentiate ATLD from other conditions. The patient showed slowly progressive cerebellar ataxia from 2 years of age, and MRI revealed atrophy of the cerebellum, oculo...
We studied two sibs with a slowly progressive neurological syndrome mimicking ataxia telangiectasia....
Ataxia-telangiectasia is a rare genetic disorder with multisystem manifestations. Major symptoms inc...
Ataxia-telangiectasia-like disorder (ATLD) due to mutations in the MRE11 gene is a very rare autosom...
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with e...
Ataxia-telangiectasia (A-T) is characterised by progressive neurological abnormalities, oculocutaneo...
Variants in tumor suppressor genes and in genes encoding DNA repairing proteins are associated with ...
Item does not contain fulltextAtaxia telangiectasia (AT) is an autosomal recessive disorder characte...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
Ataxia telangiectasia (AT) is an autosomal recessive, complex, multisystem disorder characterized by...
Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of combined immunodeficiency. Hallmark...
The association between hypogonadism and cerebellar ataxia was first recognized and described as a d...
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneratio...
Ataxia-telangiectasia is an autosomal, recessive, multisystem disorder characterized by cerebellar a...
Abstract Background Ataxia telangiectasia (AT) is a rare, multi-systemic, genetic disorder. Mutation...
Ataxia Telangiectasia (AT) is an autosomal recessive inherited disorder in which cutaneous and scler...
We studied two sibs with a slowly progressive neurological syndrome mimicking ataxia telangiectasia....
Ataxia-telangiectasia is a rare genetic disorder with multisystem manifestations. Major symptoms inc...
Ataxia-telangiectasia-like disorder (ATLD) due to mutations in the MRE11 gene is a very rare autosom...
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with e...
Ataxia-telangiectasia (A-T) is characterised by progressive neurological abnormalities, oculocutaneo...
Variants in tumor suppressor genes and in genes encoding DNA repairing proteins are associated with ...
Item does not contain fulltextAtaxia telangiectasia (AT) is an autosomal recessive disorder characte...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
Ataxia telangiectasia (AT) is an autosomal recessive, complex, multisystem disorder characterized by...
Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of combined immunodeficiency. Hallmark...
The association between hypogonadism and cerebellar ataxia was first recognized and described as a d...
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneratio...
Ataxia-telangiectasia is an autosomal, recessive, multisystem disorder characterized by cerebellar a...
Abstract Background Ataxia telangiectasia (AT) is a rare, multi-systemic, genetic disorder. Mutation...
Ataxia Telangiectasia (AT) is an autosomal recessive inherited disorder in which cutaneous and scler...
We studied two sibs with a slowly progressive neurological syndrome mimicking ataxia telangiectasia....
Ataxia-telangiectasia is a rare genetic disorder with multisystem manifestations. Major symptoms inc...
Ataxia-telangiectasia-like disorder (ATLD) due to mutations in the MRE11 gene is a very rare autosom...