A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
Abstract Background Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutati...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-01-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12881-018-0720-8 |