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PTEN mutation in a family with Cowden syndrome and autism

โœ Scribed by Goffin, Aleide ;Hoefsloot, Lies H. ;Bosgoed, Ermanno ;Swillen, Ann ;Fryns, Jean-Pierre


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
107 KB
Volume
105
Category
Article
ISSN
0148-7299

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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

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## Germline mutations of the PTEN gene are involved in Cowden disease, a genetic condition associated with an increased risk of breast cancer. Further somatic PTEN mutations have been found in glioblastomas and to a lesser extent in meningiomas. Therefore, PTEN germline mutations were searched for