Associated Papers
Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.
Yu X et al.
Investigative Ophthalmology & Visual Science, 2025
40459495 (PubMed )
Supplement: iovs-66-6-9_s002.pdf
Nanophthalmos with Foveal Hypoplasia and Wrinkling of Macular Mound Caused by Novel Biallelic PRSS56 Variants: A Case Report.
Kim M et al.
Korean Journal of Ophthalmology : Kjo, 2024
Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity.
Wu W et al.
The British Journal of Ophthalmology, 2023
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Guo C et al.
Investigative Ophthalmology & Visual Science, 2019
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