title: [Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].
authors.forename: Inés
authors.initials: I
authors.lastname: Quintela
authors.forename: Francisco
authors.initials: F
authors.lastname: Barros-Angueira
authors.forename: Laura
authors.initials: L
authors.lastname: Pérez-Gay
authors.forename: Manuel
authors.initials: M
authors.lastname: Castro-Gago
authors.forename: Ángel
authors.initials: Á
authors.lastname: Carracedo
authors.affiliation: Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Espana.
authors.forename: Jesús
authors.initials: J
authors.lastname: Eirís-Puñal
mesh_terms: D002648:Child; D038921:Coffin-Lowry Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D010641:Phenotype; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics*; D013575:Syncope / Q000209:etiology
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3