Article
Analysis of PTEN gene mutations in a Turkish patient with Cowden syndrome.
Genetic testing and molecular biomarkers - 1 Aug 2009
Soysal Yasemin, Tate Genshu, Polat Coşkun, Polat Nevriye, Aktepe Fatma, Sivaci Yaşar, Imirzalioglu Necat
Abstract excerpt
Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of the PTEN (phosphatase, tensin homolog, deleted on chromosome TEN) gene. PTEN mutations were linked to several human neoplasms. Clinical diagnosis has been based on Consortium criteria, but detection of mutations in the PTEN gene has importance in accurate diagnosis. This article presents a female patient with classic...
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