title: A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
authors.forename: Alireza
authors.initials: A
authors.lastname: Haghighi
authors.forename: Claire A
authors.initials: CA
authors.lastname: Scott
authors.forename: Daniel S
authors.initials: DS
authors.lastname: Poon
authors.forename: Reza
authors.initials: R
authors.lastname: Yaghoobi
authors.forename: Nasrollah
authors.initials: N
authors.lastname: Saleh-Gohari
authors.forename: Vincent
authors.initials: V
authors.lastname: Plagnol
authors.forename: David P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D008666:Metalloendopeptidases; C120654:MBTPS2 protein, human