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A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome
Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p.E17K variant in AKT1. As well, a number of overlapping overgrowth disorders attributable to mosaic PIK3CA variants...
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| Publicado no: | Am J Med Genet C Semin Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7520016/ https://ncbi.nlm.nih.gov/pubmed/31692258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31744 |
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