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...

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Detalles Bibliográficos
Autores principales: Sahli, Esra, Kiziltunc, Pinar Bingol, Idil, Aysun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2023
Materias:
Case Report
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

Internet

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

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