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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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| Publicado no: | BMC Ophthalmol |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7727220/ https://ncbi.nlm.nih.gov/pubmed/33302902 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-020-01711-7 |
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