Nijmegen breakage syndrome.

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...

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Autores principales: van der Burgt, I, Chrzanowska, K H, Smeets, D, Weemaes, C
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051843/
https://ncbi.nlm.nih.gov/pubmed/8929954
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