Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

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. In some cases, patients present with a diversity of neurological signs. To...

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Detalles Bibliográficos
Autores principales: Domínguez-Ruiz, María, García-Martínez, Alberto, Corral-Juan, Marc, Pérez-Álvarez, Ángel I., Plasencia, Ana M., Villamar, Manuela, Moreno-Pelayo, Miguel A., Matilla-Dueñas, Antoni, Menéndez-González, Manuel, del Castillo, Ignacio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712801/
https://www.ncbi.nlm.nih.gov/pubmed/31455392
http://dx.doi.org/10.1186/s12967-019-2041-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712801/
https://www.ncbi.nlm.nih.gov/pubmed/31455392
http://dx.doi.org/10.1186/s12967-019-2041-x

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