A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

We report the first Italian case of Nijmegen breakage syndrome (NBS). The proband is an immunodeficient, microcephalic, 11 year old boy with a "bird-like" face. He developed a T cell rich B cell lymphoma. Spontaneous chromosomal instability was detected in T and B lymphocytes and fibroblas...

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Bibliografiske detaljer
Main Authors: Tupler, R, Marseglia, G L, Stefanini, M, Prosperi, E, Chessa, L, Nardo, T, Marchi, A, Maraschio, P
Format: Artigo
Sprog:Inglês
Udgivet: 1997
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050892/
https://ncbi.nlm.nih.gov/pubmed/9132489
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