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Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son

  • Published:2013-10-04 Issue:2 Volume:36 Page:156-159
  • ISSN:1381-6810
  • Container-title:Ophthalmic Genetics
  • language:en
  • Short-container-title:Ophthalmic Genetics

Author:

Arcot Sadagopan Karthikeyan,Battista Robert,Keep Rosanne B.,Capasso Jenina E.,Levin Alex V.

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Cited by 13 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transcriptional precision in photoreceptor development and diseases – Lessons from 25 years of CRX research;Frontiers in Cellular Neuroscience;2024-02-13

2. Foveal Hypoplasia in CRB1-Related Retinopathies;International Journal of Molecular Sciences;2023-09-11

3. Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis;American Journal of Medical Genetics Part A;2023-01-03

4. Foveal hypoplasia in parents of patients with albinism;Ophthalmic Genetics;2022-09-13

5. Modeling inherited retinal dystrophies using induced pluripotent stem cells;Current Progress in iPSC Disease Modeling;2022
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