[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].

Quintela, Inés; Barros-Angueira, Francisco; Pérez-Gay, Laura; Castro-Gago, Manuel; Carracedo, Ángel; Eirís-Puñal, Jesús

[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks]. / Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo.

Quintela, Inés; Barros-Angueira, Francisco; Pérez-Gay, Laura; Castro-Gago, Manuel; Carracedo, Ángel; Eirís-Puñal, Jesús.

Affiliation

Eirís-Puñal J; Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Espana.

Rev Neurol ; 61(2): 94-6, 2015 Jul 16.

Article de Es | MEDLINE | ID: mdl-26156445

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Collection: 01-internacional Base de données: MEDLINE Sujet principal: Délétion de gène / Syndrome de Coffin-Lowry / Ribosomal Protein S6 Kinases, 90-kDa Type d'étude: Etiology_studies Limites: Child / Female / Humans Langue: Es Journal: Rev Neurol Année: 2015 Type de document: Article

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