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A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay
Mutations in CEP290, which encodes a centrosomal protein, cause Joubert syndrome, retinal dystrophy, and several other manifestations. Retinal dystrophy related to CEP290 mutation (Leber’s congenital amaurosis type 10) presents with a severe visual impairment from birth, wandering eye movements, and...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Kare Publishing
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521126/ https://www.ncbi.nlm.nih.gov/pubmed/37766766 http://dx.doi.org/10.14744/bej.2023.37233 |