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Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
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 (WE...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646644/ https://www.ncbi.nlm.nih.gov/pubmed/36393898 http://dx.doi.org/10.1016/j.ymgmr.2022.100937 |