Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

BACKGROUND: Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communication. Usher syndrome patients with early onset deafness also experience visio...

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Detalles Bibliográficos
Autores principales: Pater, Justin A., Green, Jane, O’Rielly, Darren D., Griffin, Anne, Squires, Jessica, Burt, Taylor, Fernandez, Sara, Fernandez, Bridget, Houston, Jim, Zhou, Jiayi, Roslin, Nicole M., Young, Terry-Lynn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498547/
https://www.ncbi.nlm.nih.gov/pubmed/31046701
http://dx.doi.org/10.1186/s12881-019-0777-z

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