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Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
Cardiofaciocutaneous (CFC) syndrome is one of the developmental disorders caused by a dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway. RASopathies share overlapping clinical features, making the diagnosis challenging, especially in the newborn period. The majority of CFC syn...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6995951/ https://ncbi.nlm.nih.gov/pubmed/32021610 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000504374 |
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