... that are components or modulators of the RAS-MAPK signaling pathway. NS presents a high genetic locus heterogeneity, lacking a precise genotype-phenotype correlation [ 1 ]. Despite lymphatic abnormalities (LAs) in NS included as a cardinal feature [ 2, 3 ], their frequency is not well established and a recently...

... mutations. Such associations are in line with previously observed genotype-phenotype correlations [Tartaglia et al., 2002; Sarkozy et al., 2003; Digilio et al., 2006b, 2009; Limongelli et al., 2007; Pandit et al., 2007]. Of note, a wide spectrum of CHDs was documented in the neonatal series, including also...

... characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved. Cardiofaciocutaneous syndrome Costello syndrome Genotype-phenotype correlations LEOPARD syndrome Molecular basis of disease Molecular epidemiology Mutation analysis...