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...

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Detalles Bibliográficos
Autores principales: Portelli, Stephanie, Barr, Lucy, de Sá, Alex G.C., Pires, Douglas E.V., Ascher, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2021
Materias:
Research Article
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

Internet

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

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