Condition: CARDIOFACIOCUTANEOUS SYNDROME 3


rs121908594 in MAP2K1 gene and CARDIOFACIOCUTANEOUS SYNDROME 3 PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

PMID 25423878 2015 A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.