Usher Syndrome: Genetics of a Human Ciliopathy

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported...

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Detalles Bibliográficos
Autores principales: Fuster-García, Carla, García-Bohórquez, Belén, Rodríguez-Muñoz, Ana, Aller, Elena, Jaijo, Teresa, Millán, José M., García-García, Gema
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268283/
https://www.ncbi.nlm.nih.gov/pubmed/34201633
http://dx.doi.org/10.3390/ijms22136723

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268283/
https://www.ncbi.nlm.nih.gov/pubmed/34201633
http://dx.doi.org/10.3390/ijms22136723

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