...Elyn Y.-L. Tzen; Jiin Yin Lim; Sue Mei Cheah; Jonathan T.L. Choo; Sylvia Kam; Zhi Min Ng; Biju Thomas; Saumya Jamuar; Ai Ling Koh; Ene-Choo Tan Background: Cardiofaciocutaneous syndrome (CFCS) is a rare genetic condition caused by mutations in BRAF , KRAS , MAP2K1, or MAP2K2 . It is characterized...

... to evaluate the data visually. Cardiofaciocutaneous syndrome KRAS Noonan syndrome RASopathies • It is known that germline KRAS gene mutations have been linked to both Noonan syndrome and cardiofaciocutaneous syndrome phenotypes. • KRAS T58I mutation has previously been described...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. BRAF Cardiofaciocutaneous syndrome Noonan syndrome PTPN11 RASopathy RIT1 SOS1 NS (OMIM 163950) is clinically characterized by a combination of short...

... represented the most recurrent features occurring in subjects with cardiofaciocutaneous syndrome and Costello syndrome. Thin hair was prevalent among SHOC2 and BRAF mutation-positive infants. Café-au-lait spots were found in patients with LS and PTPN11 mutations, while keratosis pilaris was more common...

... 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...