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Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation
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 the phosphatase and tensin homolog (PTEN) gene on chromosome 1...
Autores principales: | Arai, Hironori, Akagi, Kiwamu, Nakagawa, Ayako, Onai, Yasuhide, Utsu, Yoshikazu, Masuda, Shinichi, Aotsuka, Nobuyuki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829268/ https://www.ncbi.nlm.nih.gov/pubmed/36607858 http://dx.doi.org/10.1097/MD.0000000000032572 |
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