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A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report
BACKGROUND: Cowden’s syndrome (OMIM:158350), a rare genetic disorder (incidence ~ 1:250,000), is caused by mutations of the tumor suppressor gene PTEN. In this report, we describe clinical manifestations of a 56-year-old patient diagnosed with Cowden’s syndrome and his family with PTEN mutations. Th...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260738/ https://www.ncbi.nlm.nih.gov/pubmed/30482242 http://dx.doi.org/10.1186/s13256-018-1863-0 |