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10 p, 1.6 MB Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations : Overlap of TWNK-related recessive disorders / Domínguez-Ruiz, María (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García-Martínez, Alberto (Department of Neurology. Servicio de Neurología. Hospital Universitario Central de Asturias) ; Corral-Juan, Marc (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pérez-Álvarez, Ángel I. (Department of Neurology. Servicio de Neurología. Hospital Universitario Central de Asturias) ; Plasencia, Ana M. (Hospital Universitario Central de Asturias) ; Villamar, Manuela (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Moreno-Pelayo, Miguel A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Matilla-Dueñas, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mendez-Gonzalez, Manuel (Hospital Universitario Central de Asturias) ; Del Castillo, Ignacio (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Background: Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. [...]
2019 - 10.1186/s12967-019-2041-x
Journal of translational medicine, Vol. 17 Núm. 1 (28 2019) , p. 290  
Detailed record - Creative Commons

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