Gene symbol: MAP2K1. Disease: Cardio-Facio-Cutaneous syndrome.
Cave
Hélène
H
Hôpital Robert Debré, Service de Biochimie Génétique, Bd Sérurier, 48, 75019, Paris, France. helene.cave@rdb.aphp.fr
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