New p57KIP2 mutations in Beckwith-Wiedemann syndrome

@article{Hatada1997NewPM,
  title={New p57KIP2 mutations in Beckwith-Wiedemann syndrome},
  author={Izuho Hatada and Akira Nabetani and Hiroko Morisaki and Zhenghan Xin and Sachiko Ohishi and Hidefumi Tonoki and Norio Niikawa and Masahiro Inoue and Yosuke Komoto and Akira Okada and Elisabeth Steichen and Hirofumi Ohashi and Yoshimitsu Fukushima and Masahiro Nakayama and Tsunehiro Mukai},
  journal={Human Genetics},
  year={1997},
  volume={100},
  pages={681-683}
}
Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage analysis of autosomal dominant pedigrees. The increased maternal transmission pattern seen in the autosomal dominant-type pedigrees and the findings of paternal uniparental disomy reported for a subgroup of patients indicate that the gene for BWS is imprinted. Previously, we found p57 KIP2… CONTINUE READING