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Immortalization and characterization of Nijmegen Breakage Syndrome fibroblasts

✍ Scribed by Maria Kraakman-van der Zwet; Wilhelmina J.I Overkamp; Anna A Friedl; Binie Klein; Gerald W.C.T Verhaegh; Nicolaas G.J Jaspers; Alina T Midro; Friederike Eckardt-Schupp; Paul H.M Lohman; Małgorzata Z Zdzienicka

Book ID: 117614647
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 207 KB
Volume: 434
Category: Article
ISSN: 0921-8777
DOI: 10.1016/s0921-8777(99)00009-9

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W e report on a child with microcephaly, small facial and body size, and immune deficiency. The phenotype is consistent with Nijmegen breakage syndrome (NBS), with additional clinical manifestations and laboratory findings not reported heretofore. Most investigations, including the results of radiat