title: Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation.
authors.affiliation: Department of Clinical Genetics, Oxford Radcliffe NHS Trust, Churchill Hospital, Oxford, UK.
authors.forename: Helen C
authors.initials: HC
authors.lastname: Linden
authors.forename: Susan M
authors.initials: SM
authors.lastname: Price
mesh_terms: D000328:Adult; D032721:Adult Children; D000368:Aged; D004476:Ectodermal Dysplasia / Q000175:diagnosis; D019066:Facies; D005183:Failure to Thrive / Q000175:diagnosis; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D040941:Heredity; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics; D007911:Lentigo / Q000151:congenital / Q000175:diagnosis; D048370:MAP Kinase Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009035:Mothers; D020125:Mutation, Missense; D009216:Myopia / Q000151:congenital / Q000175:diagnosis; D010375:Pedigree; D006831:Polyhydramnios / Q000175:diagnosis; D011247:Pregnancy; D011666:Pulmonary Valve Stenosis / Q000151:congenital / Q000175:diagnosis
chemical_list: C482128:MAP2K2 protein, human; D048370:MAP Kinase Kinase 2