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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...

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Detalles Bibliográficos
Autores principales:	Mucciolo, Mafalda, Dello Russo, Claudio, D’Emidio, Laura, Mesoraca, Alvaro, Giorlandino, Claudio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2016
Materias:	Case Report
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

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