Condition: CARDIOFACIOCUTANEOUS SYNDROME 4
rs121434497 in
MAP2K2 gene and
CARDIOFACIOCUTANEOUS SYNDROME 4
PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
PMID 20358587 2010 Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.