Disease: Microcephaly with normal intelligence- immunodeficiency
- An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
- Autosomal recessive nonsyndromal microcephaly with normal intelligence
- Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder
- Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient
- Nijmegen Breakage syndrome: a progress report
- Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes