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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Bibliografske podrobnosti
Main Authors: van der Burgt, I, Chrzanowska, K H, Smeets, D, Weemaes, C
Format: Artigo
Jezik:Inglês
Izdano: 1996
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051843/
https://ncbi.nlm.nih.gov/pubmed/8929954
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