title: Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E).
authors.forename: Leandro
authors.initials: L
authors.lastname: Calia
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
authors.forename: Silmara P
authors.initials: SP
authors.lastname: Gouvea
authors.forename: Charles Marques
authors.initials: CM
authors.lastname: Lourenço
authors.forename: Acary S B
authors.initials: AS
authors.lastname: de Oliveira
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D005094:Exophthalmos / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*
chemical_list: C000614131:CDKN2A protein, human; D019941:Cyclin-Dependent Kinase Inhibitor p16; D009185:Myelin Proteins; D009363:Neoplasm Proteins; C073687:PMP22 protein, human