Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Recently, variants in the arylsulfatase G (ARSG) gen...

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Detalles Bibliográficos
Autores principales: Velde, Hedwig M., Reurink, Janine, Held, Sebastian, Li, Catherina H. Z., Yzer, Suzanne, Oostrik, Jaap, Weeda, Jack, Haer-Wigman, Lonneke, Yntema, Helger G., Roosing, Susanne, Pauleikhoff, Laurenz, Lange, Clemens, Whelan, Laura, Dockery, Adrian, Zhu, Julia, Keegan, David J., Farrar, G. Jane, Kremer, Hannie, Lanting, Cornelis P., Damme, Markus, Pennings, Ronald J. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556359/
https://www.ncbi.nlm.nih.gov/pubmed/35226187
http://dx.doi.org/10.1007/s00439-022-02441-0

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