Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

BACKGROUND: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features. CASE PRESENTATION: A 23-year-old man complained of a 10-year duration of nyctalopia an...

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Detalles Bibliográficos
Autores principales: Xing, Dongjun, Zhou, Huaiyu, Yu, Rongguo, Wang, Linni, Hu, Liying, Li, Zhiqing, Li, Xiaorong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727220/
https://www.ncbi.nlm.nih.gov/pubmed/33302902
http://dx.doi.org/10.1186/s12886-020-01711-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727220/
https://www.ncbi.nlm.nih.gov/pubmed/33302902
http://dx.doi.org/10.1186/s12886-020-01711-7

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