TheRPGRIP1-related retinal phenotype in children
Author:
Publisher
BMJ
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference28 articles.
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5. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis;Hanein;Human Mutat,2004
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1. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD;Genetics in Medicine Open;2024
2. The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients;International Journal of Molecular Sciences;2023-09-05
3. RPGRIP1 -related retinal disease presenting as isolated cone dysfunction;Ophthalmic Genetics;2023-02-10
4. Inherited retinal dystrophies in a Kuwaiti tribe;Ophthalmic Genetics;2022-03-10
5. Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort;Journal of Ophthalmology;2021-11-09
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