Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide
Author:
Affiliation:
1. National Eye Institute, National Institutes of Health, Bethesda, Maryland
Publisher
American Medical Association (AMA)
Subject
Ophthalmology
Link
https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2793168/jamaophthalmology_guan_2022_br_220009_1657831314.90707.pdf
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3. Sorsby fundus dystrophy: novel mutations, novel phenotypic characteristics, and treatment outcomes.;Gliem;Invest Ophthalmol Vis Sci,2015
4. Sorsby fundus dystrophy: insights from the past and looking to the future.;Anand-Apte;J Neurosci Res,2019
5. Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.;Wang;BMC Ophthalmol,2017
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1. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes;Progress in Retinal and Eye Research;2024-05
2. TIMP3/Wnt axis regulates gliosis of Müller glia;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-04
3. Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation;International Journal of Molecular Sciences;2024-03-27
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