The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5–6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LCA and examined ophthalmic findings in patients with...

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Detalles Bibliográficos
Autores principales: Torii, Kaoruko, Nishina, Sachiko, Morikawa, Hazuki, Mizobuchi, Kei, Takayama, Masakazu, Tachibana, Nobutaka, Kurata, Kentaro, Hikoya, Akiko, Sato, Miho, Nakano, Tadashi, Fukami, Maki, Azuma, Noriyuki, Hayashi, Takaaki, Saitsu, Hirotomo, Hotta, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531429/
https://www.ncbi.nlm.nih.gov/pubmed/37761981
http://dx.doi.org/10.3390/ijms241813678

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531429/
https://www.ncbi.nlm.nih.gov/pubmed/37761981
http://dx.doi.org/10.3390/ijms241813678

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