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Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation

✍ Scribed by Loredana Boccone; Valentina Dessì; Antonietta Zappu; Silvia Piga; Maria Bonaria Piludu; Marco Rais; Carlo Massidda; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 210 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31396

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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