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Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome

An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein...

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Autori principali: Di, R, Arslanian, A, Romanengo, M, Dagna-Bricarelli, F, Borrone, C
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 1999
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734289/
https://ncbi.nlm.nih.gov/pubmed/10051019
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