A novel c.1937T>C (p.Leu646Pro) missense mutation in a patient with Leber congenital amaurosis
Kaur S, Sukhija J, Kaur A, Srivastava P, Katoch D, Singh S, Chaudhary K. A novel c.1937T>C (p.Leu646Pro) missense mutation in a patient with Leber congenital amaurosis. Journal Of American Association For Pediatric Ophthalmology And Strabismus 2022, 26: 34-35. PMID: 35101627, DOI: 10.1016/j.jaapos.2021.08.300.Peer-Reviewed Original ResearchConceptsLeber congenital amaurosisCongenital amaurosisComprehensive genotype-phenotype correlationMissense mutationsSluggish pupillary reactionInherited Retinal DystrophiesGenotype-phenotype correlationNormal fundusRetinal dystrophyTyrosine kinase domainGUCY2D geneExon 9Pupillary reactionExome sequencingPatientsLow visionAmaurosisLeberMutationsGenetic studiesHyperopiaGUCY2DKinase domainFundusNystagmus
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