Article
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
Clinical genetics - 1 May 2000
Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J
Abstract excerpt
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder which belongs to the group of inherited chromosomal instability syndromes. The clinical characteristics include severe microcephaly, a dysmorphic facies, and immunodeficiency with predisposition to malignancies. While the cellular characteristics of ataxia teleangiectasia (AT) and NBS are similar, the clinical findings are quite distinct. NBS...
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