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Dermatologic manifestations of ataxia-telangiectasia syndrome.
J Am Acad Dermatol. 2013 Jun;68(6):932-6. doi: 10.1016/j.jaad.2012.12.950. Epub 2013 Jan 27.
J Am Acad Dermatol. 2013.
PMID: 23360865
Other manifestations included hypertrichosis and birdlike facies. We did not observe premature hair graying or poliosis. No genotype-phenotype correlation was found in terms of skin manifestations. ...
Other manifestations included hypertrichosis and birdlike facies. We did not observe premature hair graying or poliosis. No genotype- …
Different clinical and laboratory evolutions in ataxia-telangiectasia syndrome: report of four cases.
Forte WC, Menezes MC, Dionigi PC, Bastos CL.
Forte WC, et al.
Allergol Immunopathol (Madr). 2005 Jul-Aug;33(4):199-203. doi: 10.1157/13077743.
Allergol Immunopathol (Madr). 2005.
PMID: 16045857
We report four patients with ataxia-telangiectasia syndrome that presented varied neurologic evolution. ...The fourth patient presented, from symptom onset, immune and neurologic debilitation, that were both severe and of fast progression. The chronological s …
We report four patients with ataxia-telangiectasia syndrome that presented varied neurologic evolution. ...The fourth p …
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Altered cellular morphology and microfilament array in ataxia-telangiectasia fibroblasts.
McKinnon PJ, Burgoyne LA.
McKinnon PJ, et al.
Eur J Cell Biol. 1985 Nov;39(1):161-6.
Eur J Cell Biol. 1985.
PMID: 3910438
Cells derived from individuals with the ataxia-telangiectasia syndrome demonstrate a number of unusual properties. ...Ataxia fibroblasts showed a microfilament stress fiber pattern that appeared to have a more well defined and abundant array of stress fibers …
Cells derived from individuals with the ataxia-telangiectasia syndrome demonstrate a number of unusual properties. ...A …
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