A Murine Model of Nijmegen Breakage Syndrome
β Scribed by Bret R. Williams; Olga K. Mirzoeva; William F. Morgan; Junyu Lin; Wesley Dunnick; John H.J. Petrini
- Book ID
- 114319095
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 242 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0960-9822
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We report on five independent families with a chromosome instability disorder that earlier had been called the Nijmegen breakage syndrome (NBS). These families, two from the Netherlands and three from Czechoslovakia, had a total of eight patients, five of whom are still alive. The main clinical mani
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