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Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
This study aimed to evaluate retinal structure in the early stage of Leber’s congenital amaurosis (LCA) caused by RPGRIP1 mutations. Four patients from two families were included. Case 1 was a 13-year-old girl, cases 2 and 3 were 7-year-old monozygotic twin brothers of case 1, and case 4 was a 17-ye...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6804879/ https://ncbi.nlm.nih.gov/pubmed/31666973 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0064-8 |
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