Linden, Helen C

Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. [electronic resource] - Clinical dysmorphology Apr 2011 - 86-88 p. digital

Publication Type: Case Reports; Journal Article

1473-5717

10.1097/MCD.0b013e32833ff29d doi


Adult
Adult Children
Aged
Ectodermal Dysplasia--diagnosis
Facies
Failure to Thrive--diagnosis
Female
Heart Defects, Congenital--diagnosis
Heredity
Humans
Keratoderma, Palmoplantar--diagnosis
Lentigo--congenital
MAP Kinase Kinase 2--genetics
Male
Middle Aged
Mothers
Mutation, Missense
Myopia--congenital
Pedigree
Polyhydramnios--diagnosis
Pregnancy
Pulmonary Valve Stenosis--congenital