PT  - JOURNAL ARTICLE
AU  - van der Burgt, I
AU  - Chrzanowska, K H
AU  - Smeets, D
AU  - Weemaes, C
TI  - Nijmegen breakage syndrome.
AID  - 10.1136/jmg.33.2.153
DP  - 1996 Feb 01
TA  - Journal of Medical Genetics
PG  - 153--156
VI  - 33
IP  - 2
4099  - http://jmg.bmj.com/content/33/2/153.short
4100  - http://jmg.bmj.com/content/33/2/153.full
SO  - J Med Genet1996 Feb 01; 33
AB  - 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.