Gene symbol: MAP2K2.  Disease: Cardio-Facio-Cutaneous syndrome.
InsermU745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Avenue de l’observatoire,4, 75006, Paris, France. nadine.hanna@gmail.com
Nadine
N
Hanna
Béatrice
B
Parfait
D018389:Codon, Nonsense / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D048370:MAP Kinase Kinase 2 / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D012868:Skin Abnormalities / Q000235:genetics*; D013577:Syndrome
D018389:Codon, Nonsense; C482128:MAP2K2 protein, human; D048370:MAP Kinase Kinase 2