Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

BACKGROUND: Usher Syndrome is the commonest cause of inherited blindness and deafness. The condition is clinically and genetically heterogeneous, with no current treatment. We report a case carrying novel biallelic variants in USH2A causing progressive early adolescent onset visual and hearing impai...

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Detalles Bibliográficos
Autores principales: Young, Su Ling, Stanton, Chloe M., Livesey, Benjamin J., Marsh, Joseph A., Cackett, Peter D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962547/
https://www.ncbi.nlm.nih.gov/pubmed/35346118
http://dx.doi.org/10.1186/s12886-022-02353-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962547/
https://www.ncbi.nlm.nih.gov/pubmed/35346118
http://dx.doi.org/10.1186/s12886-022-02353-7

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