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Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome
Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are l...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926485/ https://www.ncbi.nlm.nih.gov/pubmed/27322245 http://dx.doi.org/10.3390/ijms17060952 |