A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance...

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Detalles Bibliográficos
Autores principales: Jurca, Claudia Maria, Frățilă, Ovidiu, Iliaș, Tiberia, Jurca, Aurora, Cătana, Andreea, Moisa, Corina, Jurca, Alexandru Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606311/
https://www.ncbi.nlm.nih.gov/pubmed/37895258
http://dx.doi.org/10.3390/genes14101909

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606311/
https://www.ncbi.nlm.nih.gov/pubmed/37895258
http://dx.doi.org/10.3390/genes14101909

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