We report on an 18-month-old boy with an interstitial deletion at 10q23.2-q24.1. This region includes the PTEN gene, mutations of which have been reported to cause Cowden disease. Our patient presented with manifestations of Bannayan-Riley-Ruvalcaba (BRR) syndrome. The BRR syndrome is a rare disorde
โฆ LIBER โฆ
Two novel mutations ofPTEN gene in Japanese patients with Cowden syndrome
โ Scribed by Sawada, Takeshi ;Okada, Toshihide ;Miwa, Kazuhiro ;Satoh, Hiro ;Asano, Akimichi ;Mabuchi, Hiroshi
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 90 KB
- Volume
- 128A
- Category
- Article
- ISSN
- 0148-7299
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