Results 161 to 170 of about 46,967 (195)
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Neurologic Clinics, 1987
Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
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Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
openaire +2 more sources
Journal of Computer Assisted Tomography, 1994
The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections.
L, Farina +8 more
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The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections.
L, Farina +8 more
openaire +2 more sources
DYSGERMINOMA IN A CHILD WITH ATAXIA–TELANGIECTASIA
Pediatric Hematology and Oncology, 2007Ataxia-telangiectasia is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, high incidence of cancer, and increased sensitivity to ionizing radiation. The authors report a case of dysgerminoma in a child with high alpha-fetoprotein, CA125 and beta-human chorionic gonadotropin,
Köksal, Yavuz +6 more
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Progressive cerebellar ataxia with extensive peripheral telangiectasias in ataxia-telangiectasia
BMJ Case ReportsWe present a school-aged girl with ataxia-telangiectasia (AT), a rare autosomal recessive neurodegenerative disorder. She presented with progressive cerebellar ataxia beginning at 12 months, ocular telangiectasias developing at 4 years and unusually extensive cutaneous telangiectasias on the dorsum of hands, feet and limbs emerging at 5 years ...
Gizem O Ozturk, Yagiz A Aksoy
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Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives
Journal of Multidisciplinary Healthcare, 2021Thomas O Crawford +1 more
exaly
Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders
Movement Disorders Clinical Practice, 2021Ivana Rocha Raslan +2 more
exaly