Nijmegen breakage syndrome.
AUTOR(ES)
van der Burgt, I
RESUMO
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051843Documentos Relacionados
- Unusual T cell clones in a patient with Nijmegen breakage syndrome.
- Role of Nijmegen Breakage Syndrome Protein in Specific T-Lymphocyte Activation Pathways
- Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome?
- A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.
- Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.