Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report
Abstract 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 nyctal...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-12-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-020-01711-7 |