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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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Detalles Bibliográficos
Autores principales:	Miyamichi, Daisuke, Nishina, Sachiko, Hosono, Katsuhiro, Yokoi, Tadashi, Kurata, Kentaro, Sato, Miho, Hotta, Yoshihiro, Azuma, Noriyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804879/ https://www.ncbi.nlm.nih.gov/pubmed/31666973 http://dx.doi.org/10.1038/s41439-019-0064-8

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