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Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation

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Published in 2023 at "Medicine"

DOI: 10.1097/md.0000000000032572

Abstract: Introduction: Cowden syndrome is a rare autosomal dominant disease characterized by the development of hamartomas and increased risks of other tumors, including breast, thyroid, and uterine cancers. Most patients with Cowden syndrome show mutations of… read more here.

Keywords: clinical genetic; syndrome; case; cowden syndrome ... See more keywords