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Germline PTEN mutations are rare and highly penetrant

Cowden syndrome (multiple hamartoma syndrome, MIM 158350) is an early onset syndrome characterized by multiple hamartomas in the skin, mucous membranes, breast, thyroid and endometrium. Patients with Cowden syndrome have increased risk of breast cancer, thyroid cancer and endometrial cancer. In 1997...

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Detalles Bibliográficos
Autores principales: Rustad, Cecilie F, Bjørnslett, Merete, Heimdal, Ketil R, Mæhle, Lovise, Apold, Jaran, Møller, Pål
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2837306/
https://www.ncbi.nlm.nih.gov/pubmed/20223021
http://dx.doi.org/10.1186/1897-4287-4-4-177