Ontology highlight
ABSTRACT:
SUBMITTER: Saar K
PROVIDER: S-EPMC1712504 | biostudies-literature | 1997 Mar
REPOSITORIES: biostudies-literature
Saar K K Chrzanowska K H KH Stumm M M Jung M M Nürnberg G G Wienker T F TF Seemanová E E Wegner R D RD Reis A A Sperling K K
American journal of human genetics 19970301 3
Nijmegen breakage syndrome (NBS; Seemanová II syndrome) and Berlin breakage syndrome (BBS), also known as ataxia-telangiectasia variants, are two clinically indistinguishable autosomal recessive familial cancer syndromes that share with ataxia-telangiectasia similar cellular, immunological, and chromosomal but not clinical findings. Classification in NBS and BBS was based on complementation of their hypersensitivity to ionizing radiation in cell-fusion experiments. Recent investigations have que ...[more]