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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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Foilsithe in:Int J Mol Sci
Main Authors: Fuster-García, Carla, García-Bohórquez, Belén, Rodríguez-Muñoz, Ana, Aller, Elena, Jaijo, Teresa, Millán, José M., García-García, Gema
Formáid: Artigo
Teanga:Inglês
Foilsithe: MDPI 2021
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8268283/
https://ncbi.nlm.nih.gov/pubmed/34201633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22136723
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