1. Complementation studies performed in 1988 assigned these twin sisters to NBS complementation group V1.7
2. Familial microcephaly with normal intelligence, immunodeficiency and risk for lymphoreticular malignancies: a new autosomal recessive disorder;Seemanova, E.; Passarge, E.; Beneskova, D.; HoustekJ, Kasal; P, Sevcikova; M.;Am J7 Med Genet,1985
3. Eleven Polish patients with microcephaly, immunodeficiency and chromosomal instability; the Nijmegen breakage syndrome;Chrzanowska, K.H.; Kleijer, W.J.; Krajewska-Walasek, M.;Am J Med Genet,1995
4. A chromosome breakage syndrome with profound immunodeficiency;Conley, M.E.; Spinner, N.B.; Emanuel, B.S.; Nowell, P.C.; Nichols, W.W.;Blood,1986
5. A new chromosome instability disorder confirmed by complementation studies;Wegner, R.D.; Metzger, M.; Hanefeld, F.;Clin Genet,1988