Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

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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Bibliographic Details
Main Authors: Mafalda Mucciolo, Claudio Dello Russo, Laura D’Emidio, Alvaro Mesoraca, Claudio Giorlandino
Format: Article
Language:English
Published: MDPI AG 2016-06-01
Series:International Journal of Molecular Sciences
Subjects:
cardiofaciocutaneous
RASophaties
BRAF
next generation sequencing
NGPD
Online Access:http://www.mdpi.com/1422-0067/17/6/952

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