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A novel PTEN gene promoter mutation and untypical Cowden syndrome
Cowden syndrome (CS), an autosomal dominant disorder, is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog (PTEN) gene. Although 70-80% of patients with CS have an identifiable germline PTEN mutation, the clinical diagnosis pres...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
AME Publishing Company
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3696715/ https://ncbi.nlm.nih.gov/pubmed/23825907 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.1000-9604.2013.06.02 |
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