Recurrent and Extensive Vascular Malformations in a Patient With Bannayan–Riley–Ruvalcaba Syndrome
✍ Scribed by Litzendorf, Maria; Hoang, Kimberly; Vaccaro, Patrick
- Book ID
- 123275074
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 448 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0890-5096
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## Clinical overlap between Cowden disease and Bannayan -Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. We report on a mother with
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