New p57KIP2mutations in Beckwith-Wiedemann syndrome
✍ Scribed by I. Hatada; Akira Nabetani; Hiroko Morisaki; Zhenghan Xin; Sachiko Ohishi; Hidefumi Tonoki; Norio Niikawa; Masahiro Inoue; Yosuke Komoto; Akira Okada; Elisabeth Steichen; Hirofumi Ohashi; Yoshimitsu Fukushima; Masahiro Nakayama; Tsunehiro Mukai
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 26 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0340-6717
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## Abstract Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an ideal model system to study epigenetic mechanisms. This condition is caused by a variety of genetic or epigenetic altera
The Wiedemann-Beckwith syndrome (WBS) comprises an accumulation of multiple congenital anomalies. Exomphalos, macroglossia and gigantism are considered the most common manifestations, hence the alternative designation EMG-syndrome. The syndrome carries with it an increased risk of developing specifi