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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Vydáno v:Int J Mol Sci
Hlavní autoři: Mucciolo, Mafalda, Dello Russo, Claudio, D’Emidio, Laura, Mesoraca, Alvaro, Giorlandino, Claudio
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4926485/
https://ncbi.nlm.nih.gov/pubmed/27322245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms17060952
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