Condition: Congenital anomaly of face


rs121908595 in MAP2K1 gene and Congenital anomaly of face PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

PMID 17567882 2007 Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 17981815 2008 Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

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

PMID 17551924 2007 Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

rs267607048 in SHOC2 gene and Congenital anomaly of face PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.