Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation.
Medicine(2023)
摘要
The clinical symptoms of Cowden syndrome do not always correlate with the genetic results. However, recent improvements in genetic testing suggest the importance of diagnosing this disease using both clinical and genetic approaches, in collaboration with genetic experts, to ensure an accurate diagnosis and appropriate surveillance for malignant tumors.
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关键词
Cowden syndrome,PTEN,Lhermitte-Duclos disease,dural arteriovenous fistula,surveillance,germline,variant
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