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Novel mutation of
- Source :
- Molecular genetics and metabolism reports. 33
- Publication Year :
- 2022
-
Abstract
- A seven-month-old girl presented with bilateral roving nystagmus, hyperopia, and retinal dystrophy, and was brought to our ophthalmology clinic. Visual-evoked potentials (VEPs) were non-recordable in both the eyes. No other systemic symptoms or abnormalities were observed. Whole exome sequencing (WES) identified a compound heterozygous mutation in the
Details
- ISSN :
- 22144269
- Volume :
- 33
- Database :
- OpenAIRE
- Journal :
- Molecular genetics and metabolism reports
- Accession number :
- edsair.pmid..........5a66a547d6ff06d0b0812c5402e56c06