title: RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.
authors.affiliation: Centre de Génétique Humaine.
authors.forename: I
authors.initials: I
authors.lastname: Maystadt
authors.forename: A
authors.initials: A
authors.lastname: Destree
authors.forename: V
authors.initials: V
authors.lastname: Benoit
authors.forename: A
authors.initials: A
authors.lastname: Aeby
authors.forename: D
authors.initials: D
authors.lastname: Lederer
authors.forename: S
authors.initials: S
authors.lastname: Moortgat
authors.forename: D
authors.initials: D
authors.lastname: Jurkiewicz
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.forename: A
authors.initials: A
authors.lastname: Hanauer
authors.forename: G M
authors.initials: GM
authors.lastname: Thomas
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D038921:Coffin-Lowry Syndrome / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009630:Nondisjunction, Genetic; D010375:Pedigree; D010641:Phenotype; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics*
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3