Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

@article{Sasaki2007JapaneseAN,
  title={Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations},
  author={Kensaku Sasaki and Hidenobu Soejima and Ken Higashimoto and Hitomi Yatsuki and Hirofumi Ohashi and Shinya Yakabe and Keiichiro Joh and Norio Niikawa and Tsunehiro Mukai},
  journal={European Journal of Human Genetics},
  year={2007},
  volume={15},
  pages={1205-1210}
}
Beckwith–Wiedemann syndrome (BWS) is an imprinting-related human disease. The frequencies of causative alterations such as loss of methylation (LOM) of KvDMR1, hypermethylation of H19-DMR, paternal uniparental disomy, CDKN1C gene mutation, and chromosome abnormality have been described for North American and European patients, but the corresponding frequencies in Japanese patients have not been measured to date. Analysis of 47 Japanese cases of BWS revealed a significantly lower frequency of… CONTINUE READING

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