hrp0082p2-d1-452 | Growth | ESPE2014

Rasopathies: Assessment of Growth, Genetic Study, Genotype–Phenotype Correlation and Therapeutic Response to GH in Noonan Syndrome

Heredia Claudia , Barros Francisco , Castro-Feijoo Lidia , Conde Jesus Barreiro , Rodriguez Paloma Cabanas , Arias Manuel Pombo

Background: Rasopathies are a heterogeneous group of diseases that share phenotypic characteristics such as facial dysmorphism, congenital heart disease and short stature.Objective and hypotheses: Evaluation of growth and study of the GH–IGF1 axis. Molecular Study of the PTPN11, SOS1, RAF, KRAS, NRAS, MAP2K1 and MAP2K2 genes. Evaluation of growth and study of the GH–IGF1 axis.Method: Descriptive retrospective study in pat...