Usher Syndrome: Genetics of a Human Ciliopathy

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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Bibliographic Details
Main Authors: Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:International Journal of Molecular Sciences
Subjects:
deafblindness
inherited retinal dystrophy
retinitis pigmentosa
sensorineural hearing loss
inner ear
photoreceptor
Online Access:https://www.mdpi.com/1422-0067/22/13/6723

Internet

https://www.mdpi.com/1422-0067/22/13/6723

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