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Distinguishing between PTEN clinical phenotypes through mutation analysis
Phosphate and tensin homolog on chromosome ten (PTEN) germline mutations are associated with an overarching condition known as PTEN hamartoma tumor syndrome. Clinical phenotypes associated with this syndrome range from macrocephaly and autism spectrum disorder to Cowden syndrome, which manifests as...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Research Network of Computational and Structural Biotechnology
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8180946/ https://www.ncbi.nlm.nih.gov/pubmed/34141133 http://dx.doi.org/10.1016/j.csbj.2021.05.028 |