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Radiosensitivity in ataxia-telangiectasia
The British Journal of Radiology, 1975Ataxia-telangiectasia is a syndrome of autosomal recessive inheritance characterized by cerebellar ataxia and oculocutaneous telangiectasia (Boder and Sedgwick, 1958; Karpati et al., 1965). The ataxia, which is progressive, is usually first noticed when the child starts to walk.
P N, Cunlift +4 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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A.M.A. Journal of Diseases of Children, 1960
Ataxia-telangiectasia is a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia, and frequent pulmonary infection. The first case report 1 of the syndrome was by Madame Louis-Bar, in 1941. No further reports appeared until 1957, when three further publications occurred on this subject, only one of these being available to ...
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Ataxia-telangiectasia is a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia, and frequent pulmonary infection. The first case report 1 of the syndrome was by Madame Louis-Bar, in 1941. No further reports appeared until 1957, when three further publications occurred on this subject, only one of these being available to ...
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Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives
Journal of Multidisciplinary Healthcare, 2021+2 more
exaly