Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts.
Terao
M
M
Sakai
N
N
Higashiyama
S
S
Kotobuki
Y
Y
Tanemura
A
A
Wataya-Kaneda
M
M
Yutsudo
M
M
Ozono
K
K
Katayama
I
I
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D048049:Extracellular Signal-Regulated MAP Kinases / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D048370:MAP Kinase Kinase 2 / Q000235:genetics; D008297:Male; D009154:Mutation; D010766:Phosphorylation; D012868:Skin Abnormalities / Q000175:diagnosis*; D013577:Syndrome
C482128:MAP2K2 protein, human; D048049:Extracellular Signal-Regulated MAP Kinases; D048370:MAP Kinase Kinase 2