article_metadata: Natsuki Higa Takaaki Hayashi Kei Mizobuchi Maki Iwasa Shingo Kubota Kazuki Kuniyoshi Shuhei Kameya Hiroyuki Kondo Mineo Kondo Tadashi Nakano
article_metadata: 10.3389/fmed.2024.1442107
article_metadata: Front Med (Lausanne)
article_metadata: 2024 Sep 18:11:1442107.
article_metadata: leber congenital amaurosis rpe65 gene mutation electroretinography inherited retinal dystrophy whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39359914/
article_metadata: Case Reports
article_metadata: PMC11446184
article_metadata: 39359914
article_metadata: A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan
article_metadata: 2024