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Proteus syndrome caused by novel somatic AKT1 duplication
Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The estimated worldwide incidence is approximately one in one million live births. Proteus syndrome causes disfigurement and psychological impac...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Saudi Medical Journal
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989324/ https://www.ncbi.nlm.nih.gov/pubmed/33399177 http://dx.doi.org/10.15537/smj.2021.1.25618 |